View source for Genetic testing

{{short description|Medical test}}
{{About|genetic tests for disease and ancestry or biological relationships|use in genealogy and archaeology|genealogical DNA test|use in forensics|DNA profiling}}
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{{Genetics sidebar}}
'''Genetic testing''', also known as '''DNA testing''', is used to identify changes in [[DNA]] sequence or [[chromosome]] structure. Genetic testing can also include measuring the results of genetic changes, such as [[RNA]] analysis as an output of [[gene expression]], or through [[biochemical analysis]] to measure specific [[protein]] output.<ref name="AMA">{{Cite web|url=https://www.ama-assn.org/delivering-care/precision-medicine/genetic-testing|title=Genetic testing|website=American Medical Association|language=en|access-date=October 3, 2019}}</ref> In a medical setting, genetic testing can be used to diagnose or rule out suspected [[genetic disorder]]s, [[Predictive medicine|predict risks]] for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.<ref name="AMA" /> Genetic testing can also be used to determine biological relatives, such as a child's [[biological parentage]] (genetic mother and father) through [[DNA paternity testing]],<ref>{{Cite web|url=https://americanpregnancy.org/prenatal-testing/paternity-testing/|title=Paternity Testing|date=April 25, 2012|website=American Pregnancy Association|language=en-US|access-date=October 3, 2019}}</ref> or be used to broadly predict an individual's [[ancestry]].<ref>{{Cite web|url=https://www.vox.com/science-and-health/2019/1/28/18194560/ancestry-dna-23-me-myheritage-science-explainer|title=The limits of ancestry DNA tests, explained| vauthors = Resnick B |date=January 28, 2019|website=Vox|language=en|access-date=October 3, 2019}}</ref> Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders),<ref>{{Cite web|url=https://www.vgl.ucdavis.edu/|title=UC Davis Veterinary Genetics Laboratory {{!}} Animal DNA testing {{!}} forensic testing {{!}} animal genetic research and diagnostics|website=vgl.ucdavis.edu|access-date=October 3, 2019}}</ref> to gain information used for [[selective breeding]],<ref>{{Cite web|url=https://www.bbc.co.uk/bitesize/guides/zqftrwx/revision/1|archive-url=https://web.archive.org/web/20191014215116/https://www.bbc.co.uk/bitesize/guides/zqftrwx/revision/1|archive-date=October 14, 2019|title=Selective breeding and gene technology|website=bbc.co.uk|access-date=October 14, 2019}}</ref> or for efforts to boost [[genetic diversity]] in endangered populations.<ref>{{cite journal | vauthors = Hunter ME, Hoban SM, Bruford MW, Segelbacher G, Bernatchez L | title = Next-generation conservation genetics and biodiversity monitoring | journal = Evolutionary Applications | volume = 11 | issue = 7 | pages = 1029–1034 | date = August 2018 | pmid = 30026795 | pmc = 6050179 | doi = 10.1111/eva.12661 | bibcode = 2018EvApp..11.1029H }}</ref>

The variety of genetic tests has expanded throughout the years. Early forms of genetic testing which began in the 1950s involved counting the number of chromosomes per cell. Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 ([[Down syndrome]]) or monosomy X ([[Turner syndrome]]).<ref name="Durmaz_2015">{{cite journal | vauthors = Durmaz AA, Karaca E, Demkow U, Toruner G, Schoumans J, Cogulu O | title = Evolution of genetic techniques: past, present, and beyond | journal = BioMed Research International | volume = 2015 | article-number = 461524 | date = 2015 | pmid = 25874212 | pmc = 4385642 | doi = 10.1155/2015/461524 | doi-access = free }}</ref> In the 1970s, a method to stain specific regions of chromosomes, called [[G banding|chromosome banding]], was developed that allowed more detailed [[Karyotype|analysis]] of chromosome structure and diagnosis of genetic disorders that involved large structural rearrangements.<ref>{{Cite web|url=https://www.nature.com/scitable/topicpage/karyotyping-for-chromosomal-abnormalities-298/|title=Karyotyping {{!}} Learn Science at Scitable|website=nature.com|language=en|access-date=October 14, 2019}}</ref> In addition to analyzing whole chromosomes ([[cytogenetics]]), genetic testing has expanded to include the fields of [[molecular genetics]] and [[genomics]] which can identify changes at the level of individual genes, parts of genes, or even single [[nucleotide]] "letters" of DNA sequence.<ref name="Durmaz_2015" /> According to the [[National Institutes of Health]], there are tests available for more than 2,000 genetic conditions,<ref>{{Cite web|url=https://report.nih.gov/nihfactsheets/ViewFactSheet.aspx?csid=43|title=NIH Fact Sheets - Genetic Testing: How it is Used for Healthcare|website=report.nih.gov|access-date=October 14, 2019|archive-date=August 16, 2019|archive-url=https://web.archive.org/web/20190816230116/https://report.nih.gov/nihfactsheets/ViewFactSheet.aspx?csid=43}}</ref> and one study estimated that as of 2018 there were more than 68,000 genetic tests on the market.<ref>{{Cite web|url=http://www.medscape.com/viewarticle/896361|title=10 New Genetic Tests Reach the Market Each Day|website=Medscape|access-date=October 14, 2019}}</ref>

==Types==
Genetic testing is "the analysis of [[chromosome]]s ([[DNA]]), proteins, and certain [[metabolite]]s in order to detect heritable disease-related [[genotype]]s, [[mutation]]s, [[phenotype]]s, or [[karyotype]]s for clinical purposes."<ref name="pmid9381169">{{cite journal | vauthors = Holtzman NA, Murphy PD, Watson MS, Barr PA | title = Predictive genetic testing: from basic research to clinical practice | journal = Science | volume = 278 | issue = 5338 | pages = 602–605 | date = October 1997 | pmid = 9381169 | doi = 10.1126/science.278.5338.602 | s2cid = 41939286 }}</ref> It can provide information about a [[person]]'s genes and chromosomes throughout life.

===Diagnostic testing===
* [[Cell-free fetal DNA]] (cffDNA) testing{{snd}} a non-invasive (for the fetus) test. It is performed on a sample of venous blood from the mother, and can provide information about the fetus early in pregnancy.<ref>{{cite journal | vauthors = Van den Veyver IB | title = Recent advances in prenatal genetic screening and testing | journal = F1000Research | volume = 5 | page = 2591 | date = October 28, 2016 | pmid = 27853526 | pmc = 5089140 | doi = 10.12688/f1000research.9215.1 | doi-access = free }}</ref> {{As of|2015}} it is the most sensitive and specific screening test for [[Down syndrome]].<ref name="BMO15">{{cite book| vauthors = Permezel M, Walker S, Kyprianou K |title=Beischer & MacKay's Obstetrics, Gynaecology and the Newborn|date=2015|publisher=Elsevier Health Sciences|isbn=978-0-7295-8405-0|page=74|url=https://books.google.com/books?id=eR9uDQAAQBAJ&pg=PA74|access-date=January 24, 2017|language=en}}</ref>
* [[File:Phenylketonuria testing.jpg|thumb|Newborn heel-prick blood sample collection]] [[Newborn screening]]{{snd}} used just after birth to identify genetic disorders that can be treated early in life. A blood sample is collected with a heel prick from the newborn 24–48 hours after birth and sent to the lab for analysis. In the United States, newborn screening procedure varies state by state, but all states by law test for at least 21 disorders. If abnormal results are obtained, it does not necessarily mean the child has the disorder. Diagnostic tests must follow the initial screening to confirm the disease.<ref name="Newborn Screening">{{cite web| work = Genetics Home Reference | location = Bethesda (MD) | publisher = National Library of Medicine (US) |title=Newborn Screening|url=https://medlineplus.gov/newbornscreening.html|access-date=March 22, 2015}}</ref> The routine testing of infants for certain disorders is the most widespread use of genetic testing—millions of babies are tested each year in the United States. All states currently test infants for [[phenylketonuria]] (PKU, a genetic disorder that causes [[mental illness]] if left untreated) and [[congenital]] [[hypothyroidism]] (a disorder of the [[thyroid]] gland). People with PKU do not have an enzyme needed to process the amino acid phenylalanine, which is responsible for normal growth in children and normal protein use throughout their lifetime. If there is a buildup of too much phenylalanine, brain tissue can be damaged, causing developmental delay. Newborn screening can detect the presence of PKU, allowing children to be placed on special diets to avoid the effects of the disorder.<ref name="Newborn Screening" />
* [[Diagnostic testing]]{{snd}} used to diagnose or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical mutations and symptoms. Diagnostic testing can be performed at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disease. For example, people with a family history of polycystic kidney disease (PKD) who experience pain or tenderness in their abdomen, blood in their urine, frequent urination, pain in the sides, a urinary tract infection or kidney stones may decide to have their genes tested and the result could confirm the diagnosis of PKD.<ref>{{cite web|last1=Mayo Clinic Staff|title=Polycystic Kidney Disease|url=http://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/basics/symptoms/con-20028831|website=Mayo Clinic|publisher=Mayo Foundation for Medical Education and Research|access-date=November 18, 2016}}</ref> Despite the several implications of genetic testing in conditions such as epilepsy or neurodevelopmental disorders, many patients (especially adults) do not have access to these modern diagnostic approaches, showing a relevant diagnostic gap.<ref>{{cite journal | vauthors = Aledo-Serrano A, García-Morales I, Toledano R, Jiménez-Huete A, Parejo B, Anciones C, Mingorance A, Ramos P, Gil-Nagel A | title = Diagnostic gap in genetic epilepsies: A matter of age | journal = Epilepsy & Behavior | volume = 111 | article-number = 107266 | date = October 2020 | pmid = 32610249 | doi = 10.1016/j.yebeh.2020.107266 | s2cid = 220128591 }}</ref>
* [[Carrier testing]]{{snd}} used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition like [[cystic fibrosis]].
* [[Preimplantation genetic diagnosis]]{{snd}} performed on [[human embryo]]s prior to the implantation as part of an [[in vitro fertilization]] procedure. Pre-implantation testing is used when individuals try to conceive a child through in vitro fertilization. Eggs from the woman and sperm from the man are removed and fertilized outside the body to create multiple embryos. The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus.<ref>{{cite web|last1=Mayo Clinic Staff|title=Genetic testing Why it's done - Tests and Procedures - Mayo Clinic|url=http://www.mayoclinic.org/tests-procedures/genetic-testing/basics/why-its-done/prc-20014802|website=Mayo Clinic|access-date=January 22, 2015}}</ref>
* [[File:ChorionicVillus.png|thumb|Small amounts of the chorionic villi are sampled during CVS]] [[Prenatal diagnosis]]{{snd}} used to detect changes in a [[fetus]]'s genes or chromosomes before birth. This type of testing is offered to couples with an increased risk of having a baby with a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them decide whether to [[Abortion|abort]] the pregnancy. It cannot identify all possible inherited disorders and [[birth defect]]s, however. One method of performing a prenatal genetic test involves an [[amniocentesis]], which removes a sample of fluid from the mother's amniotic sac 15 to 20 or more weeks into pregnancy. The fluid is then tested for chromosomal abnormalities such as Down syndrome (trisomy 21) and trisomy 18, which can result in neonatal or fetal death. Test results can be retrieved within 7–14 days after the test is done. This method is 99.4% accurate at detecting and diagnosing fetal chromosome abnormalities. There is a slight risk of miscarriage with this test, about 1:400. Another method of prenatal testing is [[chorionic villus sampling]] (CVS). Chorionic villi are projections from the placenta that carry the same genetic makeup as the baby. During this method of prenatal testing, a sample of chorionic villi is removed from the placenta to be tested. This test is performed 10–13 weeks into pregnancy and results are ready 7–14 days after the test was done.<ref>{{cite web| vauthors = Haugen JA |title=The Facts on Prenatal Testing |url=http://www.haugenobgyn.com/prenatal_testing.aspx |website=John A. Haugen Associates Obstetrics and Gynecology |access-date=March 26, 2015 |archive-url=https://web.archive.org/web/20150402123732/http://www.haugenobgyn.com/prenatal_testing.aspx |archive-date=April 2, 2015 }}</ref> Another test using blood taken from the fetal umbilical cord is [[percutaneous umbilical cord blood sampling]].
* Predictive and presymptomatic testing{{snd}} used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's chances of developing disorders with a genetic basis, such as certain types of [[cancer]]. For example, an individual with a mutation in ''[[BRCA1]]'' has a 65% cumulative risk of [[breast cancer]].<ref>{{cite journal | vauthors = Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF | title = Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies | journal = American Journal of Human Genetics | volume = 72 | issue = 5 | pages = 1117–1130 | date = May 2003 | pmid = 12677558 | pmc = 1180265 | doi = 10.1086/375033 }}</ref> Hereditary breast cancer along with ovarian cancer syndrome are caused by gene alterations in the genes BRCA1 and BRCA2. Major cancer types related to mutations in these genes are female breast cancer, ovarian, prostate, pancreatic, and male breast cancer.<ref name="National Institute of Health">{{cite web|title=Genetic Testing for Hereditary Cancer Syndromes|url=http://www.cancer.gov/cancertopics/genetics/genetic-testing-fact-sheet|website=National Cancer Institute|publisher=National Institute of Health|access-date=November 18, 2016|date=April 22, 2013}}</ref> Li-Fraumeni syndrome is caused by a gene alteration on the gene TP53. Cancer types associated with a mutation on this gene include breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia and brain tumors. In the Cowden syndrome there is a mutation on the PTEN gene, causing potential breast, thyroid or endometrial cancer.<ref name="National Institute of Health" /> Presymptomatic testing can determine whether a person will develop a genetic disorder, such as [[hemochromatosis]] (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person's risk of developing a specific disorder, help with making decisions about medical care and provide a better prognosis.
* [[Pharmacogenomics]]{{snd}} determines the influence of genetic variation on drug response. When a person has a disease or health condition, pharmacogenomics can examine an individual's genetic makeup to determine what medicine and what dosage would be the safest and most beneficial to the patient. In the human population, there are approximately 11 million single nucleotide polymorphisms (SNPs) in people's genomes, making them the most common variations in the human genome. SNPs reveal information about an individual's response to certain drugs. This type of genetic testing can be used for cancer patients undergoing chemotherapy.<ref>{{cite web|title=Genetic Testing|url=http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/related-policy-topics/genetic-testing.page?|website=American Medical Association|access-date=January 23, 2015}}</ref> A sample of the cancer tissue can be sent in for genetic analysis by a specialized lab. After analysis, information retrieved can identify mutations in the tumor which can be used to determine the best treatment option.<ref>{{cite web|url=http://www.cancercenter.com/cancer-genomics/genomic-tumor-assessment/|title=Genomic Tumor Assessment|website=Cancer Treatment Centers for America|publisher=Rising Tide|access-date=November 18, 2016|archive-date=November 19, 2016|archive-url=https://web.archive.org/web/20161119181930/http://www.cancercenter.com/cancer-genomics/genomic-tumor-assessment/}}</ref>

===Non-diagnostic testing===
* [[DNA profiling|Forensic testing]]{{snd}} uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).
* [[Paternity testing]]{{snd}} uses special DNA markers to identify the same or similar inheritance patterns between related individuals. Based on the fact that we all inherit half of our DNA from the father, and half from the mother, DNA scientists test individuals to find the match of DNA sequences at some highly differential markers to draw the conclusion of relatedness.
* [[Genealogical DNA test]]{{snd}} used to determine ancestry or ethnic heritage for [[genetic genealogy]].
* Research testing{{snd}} includes finding unknown genes, learning how genes work and advancing understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers.

==Medical procedure==
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available.<ref name=A-Hawkins2008>{{Cite news | vauthors = Allingham-Hawkins D |date= August 2008 |access-date= 23 September 2008 |title=Successful Genetic Tests Are Predicated on Clinical Utility |periodical=Genetic Engineering & Biotechnology News |publisher=Mary Ann Liebert |volume=28 |issue=14 |pages=6, 9 |url=http://www.genengnews.com/articles/chitem.aspx?aid=2544 |issn=1935-472X}}</ref> Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining [[informed consent]].{{citation needed|date=June 2022}}

Genetic tests are performed on a sample of [[blood]], [[hair]], [[skin]], [[amniotic fluid]] (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a [[medical procedure]] called a [[buccal smear]] uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. Alternatively, a small amount of saline [[mouthwash]] may be swished in the mouth to collect the cells. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorders, often using [[DNA sequencing]]. The laboratory reports the test results in writing to a person's doctor or genetic counselor.{{citation needed|date=June 2022}}

Routine [[newborn]] screening tests are done on a small blood sample obtained by pricking the baby's heel with a [[Blood lancet|lancet]].

==Risks and limitations==
The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or [[buccal smear]] (a procedure that samples cells from the inside surface of the cheek). The procedures used for prenatal testing carry a small but non-negligible risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.<ref name=NIHrisks>{{cite web| work = Genetics Home Reference | location = Bethesda (MD) | publisher = National Library of Medicine (US) | title = What are the risks and limitations of genetic testing?|url=https://medlineplus.gov/genetics/understanding/testing/riskslimitations/ |date=November 15, 2016}}</ref>

Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. The potential negative impact of genetic testing has led to an increasing recognition of a "right not to know".<ref>{{cite journal | vauthors = Andorno R | title = The right not to know: an autonomy based approach | journal = Journal of Medical Ethics | volume = 30 | issue = 5 | pages = 435–439 | date = October 2004 | pmid = 15467071 | pmc = 1733927 | doi = 10.1136/jme.2002.001578 }}</ref> In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested.<ref>{{cite news| vauthors = Wendelsdorf K |title=You have a genetic disorder: Should your family be told they might carry the mutation?|url=https://www.geneticliteracyproject.org/2013/10/01/you-have-a-genetic-disorder-should-your-family-be-told-they-too-might-carry-the-harmful-mutation/|work=Genetic Literacy Project|date=October 1, 2013}}</ref> The possibility of [[genetic discrimination]] in employment or insurance is also a concern. Some individuals avoid genetic testing out of fear it will affect their ability to purchase insurance or find a job.<ref>Amy Harmon, [https://www.nytimes.com/2008/02/24/health/24dna.html?_r=2&scp=5&sq=Genetic&st=nyt&oref=slogin&oref=slogin "Insurance Fears Lead Many to Shun DNA Tests,"] [[The New York Times]], February 24, 2008</ref> Health insurers do not currently require applicants for coverage to undergo genetic testing, and when insurers encounter genetic information, it is subject to the same confidentiality protections as any other sensitive health information.<ref>[http://www.actuary.org/pdf/health/geneticmono.pdf "Genetic Information and Medical Expense Insurance"], [[American Academy of Actuaries]], June 2000</ref> In the United States, the use of genetic information is governed by the [[Genetic Information Nondiscrimination Act]] (GINA) (see discussion below in the section on government regulation).

Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.<ref name=NIHrisks/>

Another limitation to genetic testing for a hereditary linked cancer, is the variants of unknown clinical significance. Because the human genome has over 22,000 genes, there are 3.5 million variants in the average person's genome. These variants of unknown clinical significance means there is a change in the DNA sequence, however the increase for cancer is unclear because it is unknown if the change affects the gene's function.<ref>{{cite journal | vauthors = King E, Mahon SM | title = Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes | journal = Clinical Journal of Oncology Nursing | volume = 21 | issue = 5 | pages = 589–598 | date = October 2017 | pmid = 28945723 | doi = 10.1188/17.cjon.589-598 | s2cid = 7240065 }}</ref>

A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.<ref name=NIHrisks/>

Other risks include [[incidental findings]]—a discovery of some possible problem found while looking for something else.<ref>{{cite news| vauthors = Wendelsdorf K |title=Personal gene maps: Is there such a thing as too much information about our DNA?|url=https://www.geneticliteracyproject.org/2013/09/17/part-i-whole-genome-sequencing-incidental-findings-and-mandatory-testing/|work=Genetic Literacy Project|date=17 September 2013}}</ref> In 2013 the American College of Medical Genetics and Genomics (ACMG) recommended that certain genes always be included any time a genomic sequencing was done, and that labs should report the results.<ref>{{cite news| vauthors = Powledge TM |title=What should be done with unsettling 'incidental findings' in gene screens?|url=https://www.geneticliteracyproject.org/2015/03/24/what-should-be-done-with-unsettling-incidental-findings-in-gene-screens/|work=Genetic Literacy Project|date=March 24, 2015}}</ref>

DNA studies have been criticised for a range of methodological problems and providing misleading, interpretations on racial classifications.<ref>{{cite journal | vauthors = Lieberman L, Jackson FL |title=Race and Three Models of Human Origin |journal=American Anthropologist |date=1995 |volume=97 |issue=2 |pages=231–242 |doi=10.1525/aa.1995.97.2.02a00030 |jstor=681958 |issn=0002-7294}}</ref><ref>{{cite book | vauthors = Celenko T |title="The Geographical Origins and Population Relationships of Early Ancient Egyptians" In Egypt in Africa |date=1996 |publisher=Indianapolis Museum of Art |location=Indianapolis, Ind. |isbn=0-936260-64-5 |pages=20–33}}</ref><ref>{{cite journal | vauthors = Brown RA, Armelagos GJ |title=Apportionment of racial diversity: A review |journal=Evolutionary Anthropology |date=2001 |volume=10, Issue 1 |issue=34–40 |pages=34–40 |doi=10.1002/1520-6505(2001)10:1<34::AID-EVAN1011>3.0.CO;2-P |s2cid=22845356 |doi-access=free }}</ref><ref>{{cite book | vauthors = Eltis D, Bradley KR, Perry C, Engerman SL, Cartledge P, Richardson D |title=The Cambridge World History of Slavery | volume = 2, AD 500-AD 1420 |date=August 12, 2021 |publisher=Cambridge University Press |isbn=978-0-521-84067-5 |page=150 |url=https://books.google.com/books?id=DskwEAAAQBAJ&dq=gourdine+critique+their+methods&pg=PA150 |language=en}}</ref><ref>{{cite book | veditors = Candelora D, Ben-Marzouk N, Cooney K |title=Ancient Egyptian society: challenging assumptions, exploring approaches |date=August 31, 2022 |location=Abingdon, Oxon | publisher = Taylor & Francis |isbn=978-0-367-43463-2 |pages=101–122}}</ref>

==Direct-to-consumer genetic testing==
[[Direct-to-consumer advertising|Direct-to-consumer]] (DTC) genetic testing (also called at-home genetic testing) is a type of genetic test that is accessible directly to the consumer without having to go through a health care professional. Usually, to obtain a genetic test, health care professionals such as physicians, nurse practitioners, or [[genetic counselors]] acquire their patient's permission and then order the desired test, which may or may not be covered by health insurance. DTC genetic tests, however, allow consumers to bypass this process and purchase DNA tests themselves. DTC genetic testing can entail primarily genealogical/ancestry-related information, health and trait-related information, or both.<ref>{{Cite web|url=https://medlineplus.gov/genetics/understanding/dtcgenetictesting/directtoconsumer/|title=What is direct-to-consumer genetic testing? | work = Genetics Home Reference | location = Bethesda (MD) | publisher = National Library of Medicine (US) |language=en|access-date=October 3, 2019}}</ref> Genetic testing has been taken on by private companies, such as [[23andMe]], [[Ancestry.com]], and [[Family Tree DNA]]. These companies will send the consumer a kit at their home address, with which they will provide a saliva sample for their lab to analyze. The company will then send back the consumer's results in a few weeks, which is a breakdown of their ancestral heritage and possible health risks that accompany it.<ref>{{Cite web |date=December 17, 2021 |title=At-home DNA test kits for 2022 {{!}} Medical News Today |url=https://www.medicalnewstoday.com/articles/at-home-dna-test-kits |access-date=November 9, 2022 |website=medicalnewstoday.com |language=en}}</ref>

There are a variety of DTC genetic tests, ranging from tests for breast cancer alleles to mutations linked to [[cystic fibrosis]]. Possible benefits of DTC genetic testing are the accessibility of tests to consumers, promotion of proactive healthcare, and the [[Genetic privacy|privacy of genetic information]]. Possible additional risks of DTC genetic testing are the lack of governmental regulation, the potential misinterpretation of genetic information, issues related to testing minors, [[Data privacy|privacy of data]], and downstream expenses for the public health care system.<ref>{{cite journal | vauthors = Borry P, Cornel MC, Howard HC | title = Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market | journal = Journal of Community Genetics | volume = 1 | issue = 3 | pages = 101–106 | date = September 2010 | pmid = 21475669 | pmc = 3063844 | doi = 10.1007/s12687-010-0023-z }}</ref> In the United States, most DTC genetic test kits are not reviewed by the [[Food and Drug Administration]] (FDA), with the exception of a few tests offered by the company [[23andMe]].<ref name="CDER_2018">{{Cite web | work = Center for Drug Evaluation and Research | publisher = U.S. Food and Drug Administration |date=November 3, 2018|title=Direct-to-Consumer Tests|url=https://www.fda.gov/medical-devices/vitro-diagnostics/direct-consumer-tests |archive-url=https://web.archive.org/web/20190614212657/https://www.fda.gov/medical-devices/vitro-diagnostics/direct-consumer-tests |archive-date=June 14, 2019 |language=en}}</ref> As of 2019, the tests that have received marketing authorization by the FDA include 23andMe's genetic health risk reports for select variants of [[BRCA mutation|BRCA1/BRCA2]],<ref>{{Cite news |url= https://www.washingtonpost.com/news/wonk/wp/2018/03/06/23andme-gets-fda-approval-to-report-breast-cancer-risk-without-a-doctor/|title=23andMe gets FDA approval to report breast cancer risk without a doctor| vauthors = Johnson CY |newspaper=Washington Post|language=en|access-date=October 11, 2019}}</ref> [[pharmacogenetic]] reports that test for selected variants associated with metabolism of certain pharmaceutical compounds, a carrier screening test for [[Bloom syndrome]], and genetic health risk reports for a handful of other medical conditions, such as [[Coeliac disease|celiac disease]] and [[Alzheimer's disease|late-onset Alzheimer's]].<ref name="CDER_2018" />

===Controversy===
DTC genetic testing has been controversial due to outspoken opposition within the medical community. Critics of DTC genetic testing argue against the risks involved in several steps of the testing process, such as the unregulated advertising and [[marketing claim]]s, the potential reselling of genetic data to third parties, the overall lack of governmental oversight, and inadequate pre-test information provision by DTC genetic testing sellers.<ref>{{Cite journal |last1=Bruins |first1=Danny |last2=Onstwedder |first2=Suzanne |last3=Cornel |first3=Martina |last4=Ausems |first4=Margreet |last5=van Mil |first5=Marc |last6=Rigter |first6=Tessel |date=April 20, 2024 |title=Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers' Websites |journal=Genes |language=en |volume=15 |issue=4 |page=517 |doi=10.3390/genes15040517 |doi-access=free |pmid=38674451 |issn=2073-4425|pmc=11049909 }}</ref><ref name="pmid18494080">{{cite journal | vauthors = Audeh MW | title = Letting the genome out of the bottle | journal = The New England Journal of Medicine | volume = 358 | issue = 20 | pages = 2184–5; author reply 2185 | date = May 2008 | pmid = 18494080 | doi = 10.1056/nejmc086053 }}</ref><ref name="pmid18184955">{{cite journal | vauthors = Hunter DJ, Khoury MJ, Drazen JM | title = Letting the genome out of the bottle--will we get our wish? | journal = The New England Journal of Medicine | volume = 358 | issue = 2 | pages = 105–107 | date = January 2008 | pmid = 18184955 | doi = 10.1056/NEJMp0708162 }}</ref><ref>{{cite journal | vauthors = Thiebes S, Toussaint PA, Ju J, Ahn JH, Lyytinen K, Sunyaev A | title = Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing | journal = Journal of Medical Internet Research | volume = 22 | issue = 1 | article-number = e14890 | date = January 2020 | pmid = 31961329 | pmc = 7001042 | doi = 10.2196/14890 | doi-access = free }}</ref><ref>{{Cite journal |last1=Onstwedder |first1=Suzanne Maria |last2=Jansen |first2=Marleen Elizabeth |last3=Cornel |first3=Martina Cornelia |last4=Rigter |first4=Tessel |date=July 17, 2024 |title=Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study |journal=Journal of Medical Internet Research |language=en |volume=26 |article-number=e47389 |doi=10.2196/47389 |doi-access=free |pmid=39018558 |issn=1438-8871|pmc=11292153 }}</ref>

DTC genetic testing involves many of the same risks associated with any genetic test. One of the more obvious and dangerous of these is the possibility of misreading of test results. Without professional guidance, consumers can potentially misinterpret genetic information, causing them to be deluded about their personal health.

Some advertising for DTC genetic testing has been criticized as conveying an exaggerated and inaccurate message about the connection between genetic information and disease risk, utilizing emotions as a selling factor. An advertisement for a [[BRCA mutation|BRCA]]-predictive genetic test for breast cancer stated: "There is no stronger antidote for fear than information."<ref>Gollust et al., [http://jama.ama-assn.org/cgi/content/full/288/14/1762#REF-JSC20258-14 "Limitations of Direct-to-Consumer Advertising for Clinical Genetic Testing,"] JAMA.2002; 288: 1762-1767</ref> Apart from rare diseases that are directly caused by specific, single-gene mutation, diseases "have complicated, multiple genetic links that interact strongly with personal environment, lifestyle, and behavior."<ref>{{cite magazine | vauthors = Nisbet MC |date=2019 |title=DNA Is Not Destiny: Challenging the Hype over Genetic Testing |magazine=[[Skeptical Inquirer]] |volume=43 |issue=4 |pages=28–30}}</ref>

[[Ancestry.com]], a company providing DTC DNA tests for [[genealogy]] purposes, has reportedly allowed the [[warrantless search]] of their database by police investigating a murder.<ref>Ronald Bailey, [http://reason.com/blog/2015/05/06/ancestrycom-hands-over-client-dna-test-r " Ancestry.com Hands Over Client DNA Test Results to Cops Without a Warrant"] Reason.com</ref> The warrantless search led to a search warrant to force the gathering of a DNA sample from a New Orleans filmmaker; however he turned out not to be a match for the suspected killer.<ref>{{cite web | author = Jim Mustian | url = http://www.theneworleansadvocate.com/news/11707192-123/new-orleans-filmmaker-cleared-in | title = New Orleans filmmaker cleared in cold-case murder; false positive highlights limitations of familial DNA searching | work = The New Orleans Advocate | access-date = May 6, 2015 | archive-date = July 11, 2016 | archive-url = https://web.archive.org/web/20160711001920/http://www.theneworleansadvocate.com/news/11707192-123/new-orleans-filmmaker-cleared-in }}</ref>

==Governmental genetic testing==
===In Estonia===
As part of its healthcare system, Estonia is offering all of its residents genome-wide genotyping. This will be translated into personalized reports for use in everyday medical practice via the national e-health portal.<ref>{{Cite web|url=https://news.err.ee/690889/estonia-offering-100-000-residents-free-genetic-testing|title=Estonia offering 100,000 residents free genetic testing|date=March 20, 2018|website=ERR}}</ref>

The aim is to minimise health problems by warning participants most at risk of conditions such as cardiovascular disease and diabetes. It is also hoped that participants who are given early warnings will adopt [[Epigenetics|healthier lifestyles]] or take [[Medication|preventative drugs]].<ref>{{Cite web|url=https://geneticliteracyproject.org/2018/04/11/estonia-launches-genetic-testing-program-for-8-of-its-population/|title=Estonia launches genetic-testing program for 8% of its population| vauthors = Nesathurai A |date=April 11, 2018}}</ref>

== The Genographic Project ==
{{Main|Genographic Project}}
In 2005, National Geographic launched the "Genographic Project", which was a fifteen-year project that was discontinued in 2020. Over one million people participated in the DNA sampling from more than 140 countries, which made the project the largest of its kind ever conducted.<ref>{{Cite journal | vauthors = Duane J |date=June 2008 |title=Deep Ancestry: Inside the Genographic Project Wells Spencer . Deep Ancestry: Inside the Genographic Project. 2006. National Geographic Society. Washington, DC. $12.95, paperback. 247 pp. ISBN 13: 978-1426201189. |journal=Western North American Naturalist |volume=68 |issue=2 |pages=260–261 |doi=10.3398/1527-0904(2008)68[260:daitgp]2.0.co;2 |s2cid=86171633 |issn=1527-0904}}</ref> The project asked for DNA samples from indigenous people as well as the general public, which spurred political controversy among some indigenous groups, leading to the coining of the term "biocolonialism".<ref>{{Cite web |title=Indigenous Peoples Council on Biocolonialism |url=http://ipcb.org/issues/human_genetics/htmls/geno_pr.html |access-date=November 9, 2022 |website=ipcb.org}}</ref>

==Government regulation==
===In the United States===
With regard to genetic testing and information in general, legislation in the United States called the [[Genetic Information Nondiscrimination Act]] prohibits group health plans and health insurers from denying coverage to a healthy person or charging that person higher premiums based solely on a [[genetic predisposition]] to developing a disease in the future. The legislation also bars employers from using genetic information when making [[Recruitment|hiring]], [[Dismissal (employment)|firing]], job placement, or [[Promotion (rank)|promotion]] decisions.<ref name="OMB support">[http://www.genome.gov/Pages/PolicyEthics/GeneticDiscrimination/SAPonHR493.pdf Statement of Administration policy], Executive Office of the President, Office of Management and Budget, April 27, 2007</ref>
Although GINA protects against genetic discrimination, Section 210 of the law states that once the disease has manifested, employers can use the medical information and not be in violation of the law, even if the condition has a genetic basis.<ref name="pmid34221431">{{cite journal | vauthors = Chapman CR, Mehta KS, Parent B, Caplan AL | title = Genetic discrimination: emerging ethical challenges in the context of advancing technology | journal = Journal of Law and the Biosciences | volume = 7 | issue = 1 | article-number = lsz016 | date = 2020 | pmid = 34221431 | pmc = 8249090 | doi = 10.1093/jlb/lsz016 }}</ref> The legislation, the first of its kind in the United States,<ref name="tedkennedy">{{cite web | url = http://kennedy.senate.gov/newsroom/press_release.cfm?id=4FCF8E86-4706-4E74-B451-36253C5A425D | title = Kennedy in support of genetic information nondiscrimination bill | date = April 24, 2008 | access-date = May 28, 2008 }}</ref> was passed by the [[United States Senate]] on April 24, 2008, on a vote of 95–0, and was signed into law by President [[George W. Bush]] on May 21, 2008.<ref name="Law">{{cite news | url=http://blog.wired.com/wiredscience/2008/05/the-genetic-inf.html | title=Genetic Discrimination by Insurers, Employers Becomes a Crime | vauthors = Keim B | work=Wired.com | date=May 21, 2008 | access-date=May 28, 2008}}</ref><ref>{{cite web | url = http://www.kaisernetwork.org/daily_reports/rep_index.cfm?DR_ID=52305 | title = Administration News: President Bush Signs Genetic Nondiscrimination Legislation Into Law | work = Kaiser Daily Health Policy Report | publisher = [[Kaiser Family Foundation]] | date = May 22, 2008 | archive-url = https://web.archive.org/web/20090329011924/http://www.kaisernetwork.org/daily_reports/rep_index.cfm?DR_ID=52305 | archive-date = March 29, 2009 }}</ref> It went into effect on November 21, 2009.

In June 2013 the US Supreme Court issued two rulings on human genetics. The Court struck down patents on human genes, opening up competition in the field of genetic testing.<ref>{{Citation |url= https://www.nytimes.com/2013/06/14/us/supreme-court-rules-human-genes-may-not-be-patented.html |title= Justices, 9-0, Bar Patenting Human Genes | vauthors = Liptak A |author-link= Adam Liptak |newspaper= [[New York Times]] |date=June 13, 2013 |access-date= June 30, 2013}}</ref> The Supreme Court also ruled that police were allowed to collect DNA from people arrested for serious offenses.<ref>{{Citation |title= Justices Allow DNA Collection After an Arrest | vauthors = Liptak A |author-link= Adam Liptak |newspaper= [[New York Times]] |date= June 3, 2013 |url= https://www.nytimes.com/2013/06/04/us/supreme-court-says-police-can-take-dna-samples.html |access-date= June 30, 2013}}</ref>

===In the European Union===
Effective as of May 25, 2018, companies that process genetic data must abide by the [[General Data Protection Regulation]] (GDPR).<ref>{{Cite web|url=https://gdpr-info.eu/art-9-gdpr/|title=Processing of special categories of personal data|website=gdpr-info.eu|access-date=October 23, 2021}}</ref><ref name="EC_2018">{{Cite web|url=https://ec.europa.eu/commission/sites/beta-political/files/data-protection-overview-citizens_en.pdf|title=It's your Data - Take Control: Data Protection in the EU|date=2018|website=European Commission|access-date=May 1, 2019}}</ref> The GDPR is a set of rules/regulations that helps an individual take control of their data that is collected, used, and stored digitally or in a structured filing system on paper, and restricts a company's use of personal data.<ref name="EC_2018" /> The regulation also applies to companies that offer products/services outside the EU.<ref name="EC_2018" />

=== In Germany ===
Genetic testing in Germany is governed by the Genetic Diagnostics Act (GenDG),<ref>{{Cite web |date=February 10, 2020 |title=German Genetic Diagnostics Act |url=https://www.medgen-mainz.de/en/for-physicians/request-forms/german-genetic-diagnostics-act/#:~:text=The%20German%20Genetic%20Diagnostics%20Act,of%20genetic%20samples%20and%20data. |access-date=November 16, 2024 |website=medgen-mainz.de |language=en}}</ref> which mandates that health-related genetic tests can only be carried out under medical supervision to ensure the proper interpretation of results and informed decision-making. The law emphasizes genetic counseling and informed consent, protecting individuals from potential misuse or misunderstanding of their genetic data.

=== In France ===
The legal status of genetic testing in France is regulated under strict privacy and data protection laws, including the Bioethics Law.<ref>{{Cite web |last=Chivot |first=Eline |date=July 24, 2019 |title=Tests génétiques: pourquoi la France doit assouplir sa loi bioéthique |url=https://www.contrepoints.org/2019/07/24/349722-tests-genetiques-pourquoi-la-france-doit-assouplir-sa-loi-bioethique |access-date=November 16, 2024 |website=IREF Europe - Contrepoints |language=fr-FR}}</ref> Direct-to-consumer (DTC) genetic tests, especially those for health-related purposes, are prohibited unless conducted with medical oversight to ensure informed consent and appropriate counseling.<ref>{{Cite web |last=Boodman |first=Eric |date=November 14, 2019 |title=In France, it's illegal for consumers to order a DNA spit kit. Activists are fighting over lifting the ban |url=https://www.statnews.com/2019/11/14/france-consumer-genetic-testing-ban/#:~:text=The%20French%20ban%20on%20direct,rules%20about%20commercial%20DNA%20analysis. |access-date=November 16, 2024 |website=STAT |language=en-US}}</ref> This is due to concerns about the potential misuse of genetic data and privacy violations. While health-related genetic testing is allowed within a medical context, tests for non-medical purposes, such as ancestry or personal traits, also face legal restrictions, particularly regarding consumer access.

===In Russia===

Russian law<ref>Articles 10 and 11 of the Federal Law of July 27, 2006 No. 152-FZ "On Personal Data"</ref> provides that the processing of special categories of personal data relating to race, nationality, political views, religious or philosophical beliefs, health status, intimate life is allowed if it is necessary in connection with the implementation of international agreements of the Russian Federation on readmission and is carried out in accordance with the legislation of the Russian Federation on citizenship of the Russian Federation. Information characterizing the physiological and biological characteristics of a person, on the basis of which it is possible to establish his identity (biometric personal data), can be processed without the consent of the subject of personal data in connection with the implementation of international agreements of the Russian Federation on readmission, administration of justice and execution of judicial acts, compulsory state fingerprinting registration, as well as in cases stipulated by the legislation of the Russian Federation on defense, security, anti-terrorism, transport security, anti-corruption, operational investigative activities, public service, as well as in cases stipulated by the criminal-executive legislation of Russia, the legislation of Russia on the procedure for leaving the Russian Federation and entering the Russian Federation, citizenship of the Russian Federation and notaries.

Within the framework of this program, it is also planned to include the peoples of neighboring countries, which are the main source of migration, into the genogeographic study on the basis of existing collections.<ref>{{Cite journal| vauthors = Mirolyubova S |title=Problems of Using DNA Test for Family Reunification and Repatriation |url= https://surguvest.elpub.ru/jour/article/view/571|journal=Surgut State University Journal|year=2021|volume=1 | issue = 31 |pages=91–100 |doi=10.34822/2312-3419-2021-1-91-100}}</ref>

=== In UAE ===
By the end of 2021, the UAE Genome Project will be in full swing, as part of the National Innovation Strategy, establishing strategic partnerships with top medical research centers, and making sustainable investments in healthcare services. The project aims to prevent genetic diseases through the use of genetic sciences and innovative modern techniques related to profiling and genetic sequencing, in order to identify the genetic footprint and prevent the most prevalent diseases in the country, such as obesity, diabetes, hypertension, cancer, and asthma. It aims to achieve personalized treatment for each patient based on genetic factors. Additionally, a study by Khalifa University has identified, for the first time, four genetic markers associated with type 2 diabetes among UAE citizens.<ref>{{Cite web |title=
الإمارات تعد بإنجاز المشروع الصحي الاستراتيجي لأبنــاء الدولة 2021 | trans-title = The UAE promises to complete the strategic health project for the country's people in 2021 | date = December 4, 2017 | language = Arabic |url=http://www.albayan.ae/across-the-uae/news-and-reports/2017-12-04-1.3120616
 |archive-url=https://web.archive.org/web/20171204005915if_/http://www.albayan.ae/across-the-uae/news-and-reports/2017-12-04-1.3120616
 |archive-date=December 4, 2017
 | work = Albayan}}</ref>

===In Israel===
The Israeli [[Knesset]] passed the Genetic Information Law in 2000, becoming one of the first countries to establish a regulatory framework for the conducting of genetic testing and genetic counseling and for the handling and use identified genetic information. Under the law, genetic tests must be done in labs accredited by the [[Ministry of Health (Israel)|Ministry of Health]]; however, genetic tests may be conducted outside Israel. The law also forbids discrimination for employment or insurance purposes based on genetic test results. Finally, the law takes a strict approach to genetic testing on minors, which is permitted only for the purpose of finding a genetic match with someone ill for the sake of medical treatment, or to see whether the minor carries a gene related to an illness that can be prevented or postponed.<ref name="Zlotogora">{{cite journal | vauthors = Zlotogora J | title = Genetics and genomic medicine in Israel | journal = Molecular Genetics & Genomic Medicine | volume = 2 | issue = 2 | pages = 85–94 | date = March 2014 | pmid = 24689070 | pmc = 3960049 | doi = 10.1002/mgg3.73 }}</ref><ref>{{cite news | vauthors = Even D |title=A Different Kind of Inheritance |url=https://www.haaretz.com/2009-10-22/ty-article/a-different-kind-of-inheritance/0000017f-e6de-dc7e-adff-f6ff10f30000 |access-date=January 16, 2024 |work=[[Haaretz]] |date=October 22, 2009 |archive-url=https://archive.today/20240116050512/https://www.haaretz.com/2009-10-22/ty-article/a-different-kind-of-inheritance/0000017f-e6de-dc7e-adff-f6ff10f30000 |archive-date=January 16, 2024}}</ref>

Under the Genetic Information Law as of 2019, commercial DNA tests are not permitted to be sold directly to the public, but can be obtained with a court order, due to data privacy, reliability, and misinterpretation concerns.<ref>{{cite news | vauthors = Keyser Z |title=Want to fully understand your family genealogy? Not without a court order |url=https://www.jpost.com/israel-news/want-to-fully-understand-your-family-genealogy-not-without-a-court-order-585230 |access-date=January 16, 2024 |work=[[Jerusalem Post]] |date=March 30, 2019}}</ref>

==Anthropological view==

Three to five percent of the funding available for the [[Human Genome Project]] was set aside to study the many [[ELSI|social, ethical, and legal implications]] that will result from the better understanding of human heredity the rapid expansion of genetic risk assessment by genetic testing which would be facilitated by this project.<ref>{{cite book | vauthors = Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG |title=Assessing Genetic Risks: Implications for Health and Social Policy |series=The National Academies Collection: Reports funded by National Institutes of Health |date=1994 |publisher=[[Institute of Medicine]] |pmid=25144102 |isbn=0-309-04798-6 |url=https://www.ncbi.nlm.nih.gov/books/NBK236042/ |access-date=October 3, 2021}}</ref>

=== Genealogical DNA testing ===
Genetic testing influences how we perceive identity, ancestry, and group membership. Genealogical DNA testing has been critiqued for its potential to affirm and normalise biological race science. Genetic ancestry tests—which uses biological data to predict a person's genetic similarity to a variety of social groups—reify biological race by seemingly providing concrete biological explanations for racial group variety. Marketing for ancestry tests often supports this misconception that humans can be separated into biologically distinct groups.<ref name=":0">{{Cite journal |last=Benn |first=Torres |date=2020 |title=Anthropological perspectives on genomic data, genetic ancestry, and race |url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajpa.23979 |journal=American Journal of Physical Anthropology |volume=171 |issue=70 |pages=74–86 |doi=10.1002/ajpa.23979 |pmid=31837009 |bibcode=2020AJPA..171S..74B |via=WILEY Online Library}}</ref>

However, genetic ancestry testing also has the potential to complicate these same notions. Subjectivities, based on identification with a particular race, can be challenged when genetic testing reveals ancestry from another group. For instance, someone who identifies as white may have their subjective experiences challenged upon discovering shared ancestry with a marginalised group. This can force them to examine ideas of what it means for them to continue identifying as white.<ref name=":0" />

Genetic ancestry tests impact on a person's subjective identification with race can even be mediated by their prior identifications. White consumers of these tests are more likely to identify with newly discovered ancestral backgrounds, due to viewing whiteness as boring or plain as opposed to the perceived exoticism of other identities.<ref>{{Cite journal |author1=Roth, W |author2=Ivemark, B. |date=2018 |title=Genetic options: The impact of genetic ancestry testing on consumers' racial and ethnic identities |url=https://www.jstor.org/stable/26546171 |journal=American Journal of Sociology |volume=124 |issue=1 |pages=150–184 |doi=10.1086/697487 |jstor=26546171 |via=JSTOR}}</ref>

=== In Vitro Fertilisation ===
Ethical implications surrounding genetic testing also arise with the use of In Vitro Fertilisation (IVF). Genetic testing is used in IVF to test embryos for potentially fatal diseases to determine the strongest candidates.<ref name=":1">{{Cite journal |last=Bumgarner |first=Ashley |date=2007 |title=A Right to Choose: Sex Selection in the International Context |url=https://heinonline.org/hol-cgi-bin/get_pdf.cgi?handle=hein.journals/djglp14&section=38 |journal=Duke J. Gender L. & Pol'y |volume=14 |page=1289 |via=Heinonline}}</ref> With this they are also able to see the sex of these embryos, meaning people who undergo IVF are able to choose the sex of their future child.

This gender selection of embryos is not aimed at assessing the viability of said embryo, rather a cultural act that has deep roots in most societies around the world.<ref name=":1" /> This practice perpetuates the historical gender power dynamics reflecting how gender and sex are central to kinship, inheritance, and cultural ideals of families.<ref>{{Cite book |last=Suryanarayanan |first=Sheela |title=Women's Empowerment and Son Preference in India: Feminist and Ethical discourse on Sex Selective Abortions |publisher=Berghahn Books |date=1 June 2025 |isbn=978-1-83695-008-0 |location=GB |language=English}}</ref> In patriarchal societies gender selection is used to facilitate son preference and the devaluing of daughters, reinforcing the existing hierarchies present in current society under the guise of choice.<ref>{{Cite book |last=Purewal |first=Navtej |title=Son preference: Sex selection, gender, and culture in South Asia |publisher=Bloomsbury Publishing |year=2010 |isbn=978-1-84788-753-5 |edition=1st |location=United Kingdom |publication-date=April 2010 |language=English}}</ref>

This practice is justified under the context of reproductive autonomy, it is clear that these so-called choices are culturally informed and shaped by society.<ref>{{Cite journal |author1=Ginsburg |author2=Rapp, R. |date=1991 |title=The Politics of Reproduction |url=https://www.jstor.org/stable/2155804 |journal=Annual Review of Anthropology |volume=20 |pages=311–343 |doi=10.1146/annurev.an.20.100191.001523 |jstor=2155804 |pmid=12288961 |via=JSTOR}}</ref> This reinforces the stereotypes of each gender's roles within a family unit. It is argued that technologies, such as these, sort embryos for socially desirable traits and removes the natural randomness of sex determination with targeted intervention.<ref>{{Cite book |author1=Franklin, S. |author2=Roberts, C. |title=Born and made: An ethnography of preimplantation genetic diagnosis |date=October 30, 2006 |publisher=Princeton University Press |isbn=978-1-4008-3542-3 |location=United States |language=English}}</ref>

=== Paternity testing ===
While paternity testing has proven an important genetic test within the medical field, its place in shaping human experience cannot be overlooked. Paternity testing can provide answers to the fundamental individual need to know where one came from. However, the development of the technology has somewhat ridiculed the origins of 'father' being a provider of care, support, and inspiration regardless of bloodline.<ref>{{Cite journal |author1=Robson, Z.|author2=Gozho C.S |author3=Muzingili, T. |date=2024 |title=Seeking for clarity in genetic science: exploring the factors behind men's decisions to seek DNA testing in Zimbabwe |url=https://www.tandfonline.com/doi/full/10.1080/23311886.2024.2415527 |journal=Cogent Social Sciences |volume=10 |issue=1 |pages=1–18 |article-number=2415527 |doi=10.1080/23311886.2024.2415527 |via=Taylor & Fancis}}</ref>

Paternity is not always defined by biology, 'father' or 'fathers' can be defined by their role as a provider of care and support to the offspring in contemporary society. With the increasing availability of tests, and the shifting recognition and meaning of paternity within the law, rates of paternity tests are increasing.<ref>{{Cite journal |last=Fonseca |first=C |date=2019 |title=DNA and the displacement of certainties in Brazilian family law |url=https://doi.org/10.1590/1984-6487.sess.2019.32.02.a |journal=Sexualidad, Salud y Sociedad (Rio de Janeiro) |volume=32 |issue=32 |pages=4–19 |doi=10.1590/1984-6487.sess.2019.32.02.a |via=SciELO Brazil}}</ref> Shifting legal practices, which are emphasising 'reproductive history' to declare paternity, to place more responsibility and rights upon the biological father.<ref>{{Cite journal |last=Gourarier |first=M |date=2021 |title='Are you paying for somebody else's?' The value of secrecy in the uses of DNA paternity tests in the USA |url=https://www.berghahnjournals.com/view/journals/saas/29/2/soca13033.xml |journal=Social Anthropology |volume=29 |issue=2 |pages=495–510 |doi=10.1111/1469-8676.13033 |via=Berghahn Journals}}</ref> This discourse places the question of 'who is the father?' above the more significant question 'what is the father?'.

The consideration of responsibilities that define fatherhood as 'lesser' is counterproductive to creating strong familial bonds, nor does it allow individuals to gain a deep sense of self through family. With the increasing demand for paternity testing, it is important for society to hold both meanings of fatherhood and the question of 'what' vs 'who' in equal importance.

===Paediatric genetic testing===
The [[American Academy of Pediatrics]] (AAP) and the [[American College of Medical Genetics]] (ACMG) have provided new guidelines for the ethical issue of [[pediatric]] genetic testing and [[Screening (medicine)|screening]] of children in the United States.<ref name=Time2013>{{cite magazine|last1=Rochman|first1=Bonnie|title=New Guidelines for Genetic Testing in Children|url=https://healthland.time.com/2013/02/21/new-guidelines-for-genetic-testing-in-children/|magazine=Time|date=February 21, 2013}}</ref><ref name=2013Policy>{{cite journal | title = Ethical and policy issues in genetic testing and screening of children | journal = Pediatrics | volume = 131 | issue = 3 | pages = 620–622 | date = March 2013 | pmid = 23428972 | doi = 10.1542/peds.2012-3680 | s2cid = 42535260 | doi-access = free | quote = All policy statements from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time | vauthors = Fallat ME, Katz AL, Mercurio MR, Moon MR, Okun AL, Webb SA, Weise KL, Saul RA, Braddock SR, Chen E, Freedenberg DL, Jones MC, Perrin JM, Tarini BA, David KL, Bartoshesky LE, Anderson RR, Best RG, Hoffman JD, Ito M, Lemke AA, Murray ML, Sharp RR, Bhambhani V }}</ref> Their guidelines state that performing pediatric genetic testing should be in the best interest of the child. AAP and ACMG recommend holding off on genetic testing for late-onset conditions until adulthood, unless diagnosing genetic disorders during childhood can reduce morbidity or mortality (e.g., to start early intervention). Testing asymptomatic children who are at risk of childhood onset conditions can also be warranted.
Both AAP and ACMG discourage the use of [[direct-to-consumer]] and home kit genetic tests because of concerns regarding the accuracy, interpretation and oversight of test content.
Guidelines also state that parents or guardians should be encouraged to inform their child of the results from the genetic test if the minor is of appropriate age. For ethical and legal reasons, health care providers should be cautious in providing minors with predictive genetic testing without the involvement of parents or guardians. Within the guidelines set by AAP and ACMG, health care providers have an obligation to inform parents or guardians on the implication of test results.
AAP and ACMG state that any type of predictive genetic testing should be offered with [[genetic counseling]] by [[clinical genetics]], [[genetic counselors]] or health care providers.<ref name=2013Policy/>

===Israel===

In Israel, DNA testing is used to determine if people are eligible for immigration. The policy where "many Jews from the former Soviet Union (FSU) are asked to provide DNA confirmation of their Jewish heritage in the form of paternity tests in order to immigrate as Jews and become citizens under Israel's [[Law of Return]]" has generated controversy.<ref>{{cite journal | vauthors = McGonigle IV, Herman LW | title = Genetic citizenship: DNA testing and the Israeli Law of Return | journal = Journal of Law and the Biosciences | volume = 2 | issue = 2 | pages = 469–478 | date = July 2015 | pmid = 27774208 | pmc = 5034383 | doi = 10.1093/jlb/lsv027 }}</ref><ref>{{Cite web|url=https://www.jpost.com/israel-news/politics-and-diplomacy/new-law-says-genetic-test-valid-for-determining-jewish-status-in-some-cases-506584|title='Who is a Jew?' can now be answered by genetic testing|website=The Jerusalem Post &#124; JPost.com|date=October 3, 2017 }}</ref><ref>{{Cite web|url=https://www.jpost.com/magazine/should-jewishness-be-determined-by-a-genetic-test-514968|title=Should Jewishness be determined by a genetic test?|website=The Jerusalem Post &#124; JPost.com|date=November 25, 2017 }}</ref><ref>[https://lawoffice.org.il/en/aliyah-to-israel-by-dna-test/ Is It Possible to Make Aliyah to Israel on the Basis of a DNA Test?]</ref>

==Costs and time==

From the date that a sample is taken, results may take weeks to months, depending upon the complexity and extent of the tests being performed. Results for prenatal testing are usually available more quickly because time is an important consideration in making decisions about a pregnancy. Prior to the testing, the doctor or genetic counselor who is requesting a particular test can provide specific information about the cost and time frame associated with that test.<ref>{{cite web|work = Genetics Home Reference | location = Bethesda (MD) | publisher = National Library of Medicine (US) | title = What is the cost of genetic testing, and how long does it take to get the results?|url=https://medlineplus.gov/genetics/understanding/testing/costresults/ |date=November 15, 2016}}</ref>

== See also ==
* [[Biobank]]
* [[Designer baby]]
* [[Elective genetic and genomic testing]]
* [[Eugenics]]
* [[Exome sequencing]]
* [[Full genome sequencing]]
* [[List of genetic disorders]]
* [[List of genetic genealogy topics]]
* [[Michiei Oto]]
* [[New eugenics]]
* [[Non-paternity event]]
* [[Personalized medicine]]
* [[Designer baby#Pre-implantation genetic diagnosis|Pre-implantation genetic diagnosis to avoid birth defects]]

== References ==
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{{HHS content|url=https://ghr.nlm.nih.gov/primer/testing/riskslimitations|title=What are the risks and limitations of genetic testing?}}
{{HHS content|url=https://ghr.nlm.nih.gov/primer/testing/costresults|title=What is the cost of genetic testing, and how long does it take to get the results?}}

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{{Personal genomics}}
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[[Category:Genetics techniques]]
[[Category:Medical tests]]
[[Category:Medical genetics]]
[[Category:Alternatives to animal testing]]
[[Category:Personalized medicine]]