Where Can You Get Genetic Testing Done

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Direct-to-consumer (DTC) genetic tests are sold online and in stores as a way to “find out what your DNA says.” 12 Test kits typically include instructions and equipment to collect a saliva sample that customers send to DTC. for analysis.

Some DTC genetic tests provide information about ancestry or disease risks; others claim to provide information about a child’s personality, athletic abilities, and abilities. However, the interpretation of genetic data is complex and context-dependent, and DTC genetic testing can produce false-positive and false-negative results.

Where Can You Get Genetic Testing Done

Where Can You Get Genetic Testing Done

Anyone concerned about the results of a DTC genetic test can contact their general practitioner (GP) or other primary care provider for advice. This practice pointer aims to assist clinicians in this scenario and explains what types of health information these tests provide, their limitations, and how clinicians can answer frequently asked questions about them.

Prenatal Genetic Testing

Most DTC genetic tests do not sequence the entire genome. They usually use a method called SNP chip genotyping, which checks for the presence or absence of certain single nucleotide polymorphisms (SNPs) or specific variants such as small insertions or deletions throughout the genetic code. SNP chip genotyping is good at detecting common genetic variants, but when SNP chips detect very rare variants, they are often false positives (ie not really present in the person’s DNA).3

Genome sequencing is another method more commonly used in DTC genetic testing. These tests sequence almost the entire genetic code and identify variants within it. However, detecting variants is not the same as knowing their clinical implications; genetic variants are difficult to interpret clinically and are context dependent.

People may be drawn to DTC genetic testing in the hope that it will provide definitive information about their future health. This idea can be reinforced with advertisements. For example, a recent analysis of advertisements for DTC genetic testing noted that some tests were presented as potentially empowering, and the decision to portray them as responsible—a way for people to take an active role in managing their own health.4 “The personalized medicine that genetic testing promises ”, is often portrayed in an optimistic light in the mainstream media5, and genetic technology is often portrayed quite accurately. As a result, people may experience genetic testing as clearly predictive and expect the results to help them plan for the future.6 Our research group recently conducted a YouGov survey of around 2,000 people in the UK and found that the most common word was: “people who sequencing genomes in healthcare”. chose to describe it as “informative”.7 A conversation with a patient considering genetic testing is summarized in Box 1.

If you have a specific clinical question for which NHS genetic testing can be done (based on personal or family history of a possible genetic condition), it is probably better to access genetic testing through the NHS rather than through a DTC company. Unless you have a specific question, it is outside of standard clinical practice to discuss the pros and cons of specific tests.

Should We Have Genetic Testing?

Does the DTC genetic testing company have real people you can talk to? Are they qualified (eg genetic counselors) to provide advice in response to your clinical concerns?

If you are worried about your test results or want further advice, this can be difficult to get on the NHS.

Sometimes tests have important limitations. If you are concerned about a genetic condition in your family, is the DTC genetic test you are considering comprehensive enough to accurately screen for? (see ‘

Where Can You Get Genetic Testing Done

DTC genetic tests sometimes reveal information about your family (such as a family health risk or family relationships that are different from what you expected). Have you told your family that you are considering genetic testing?

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DTC companies may collect, store, sell or conduct research on your genetic information. Do you find that acceptable? Do you know who can access your data?

For people considering purchasing DTC genetic tests, more information can be found on the Genetic Alliance website ( https://www.geneticalliance.org.uk/information/service-and-testing/direct-to-consumer-genetic-testing /) and the website of the Association of Genetic Nurses and Counselors (https://www.agnc.org.uk/info-education/documents-websites/).

• Polygenic risk scores—combine many different common variants in the genome to place one into a broad risk category, for example, “your genes predispose you to be about 3% heavier than average.” The validity and utility of these risk scores for predictive clinical purposes is hotly debated. In our opinion, although polygenic results are useful in investigating the causes of disease or stratifying the population according to higher and lower risks, they rarely can usefully predict disease.8

• Genotype at specific points—looks for specific variants that affect the possibility of developing certain diseases, for example,

Direct To Consumer Genetic Testing

Gene. People with this result have an increased risk of developing late-onset Alzheimer’s disease.” These types of tests can also be used to identify variants that affect drug metabolism.

• Carrier screening—looks for specific variants to identify individuals who are carriers of certain recessive genetic conditions, e.g.

Gene. If you and your partner are both carriers, each child may have a 25% chance of having the condition.” Many carrier tests are ancestral: they test for specific carrier variants that are common in a particular ancestral group. If someone from a different background is a carrier, it probably wouldn’t be detected because it could be due to a different carrier variant (which the test won’t check for).

Where Can You Get Genetic Testing Done

• Uninterpreted “raw” genetic data—some DTC genetic testing companies provide access to uninterpreted genetic data. Clients can download their data and seek interpretation using third-party services.9 These typically work by comparing the data to freely available genetic databases and generating a report based on comments in those databases (which may not be up-to-date).10 Not reported by the original company for DTC genetic testing or may report underreferenced variants and disease risks and reuse raw data from tests designed to answer other questions, such as ancestry, to attempt to provide health information.

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Jake purchased an online DTC genetic test while researching his family history. He enjoyed learning about his ancestry, so he decided to pay for an optional medical examination. He was very upset when he learned this: “You have a variant identified in the LRRK2 gene. People with this variant have a higher risk of developing Parkinson’s disease.” Jake had no family history of Parkinson’s disease.

If a “disease-causing” or “disease-predisposing” genetic variant is found in a person with no medical or family history, that person may have protective genetic (or other) factors in their family that are not currently measurable. this means that the variant is less likely to cause disease in that person. Most people with visible “positive” results will not go on to develop the condition.

The predictive value of a “disease-causing variant” is often greatly reduced when found outside the context of a family history of the disease.11 For example, a study of people with a genetic form of diabetes showed that 75% of patients had the disease. those carrying a certain variant (R114W)

Gene developed diabetes by the age of 40. 12 A recent study examining the same R114W variant in UK Biobank participants who were not selected as prediabetic showed that only 10% develop diabetes by age 40 years. 11 Even if a person has a family history, “high genetic risk” through DTC genetic testing shows that they will definitely develop the condition. It does not mean.

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Aoife was given a DTC pedigree test for Christmas. He submitted his raw genetic data to an online interpretation service. This indicates that she has the disease-causing variant of BRCA1 (which increases the risk of breast and ovarian cancer). Aoife did not have a strong family history of breast or ovarian cancer. She asked the doctor to refer her to a breast surgeon. He met the surgeon who scheduled the operation. His doctor also referred him to a clinical genetics service who organized NHS testing to check whether the BRCA1 variant was indeed present in Aoife’s DNA – it wasn’t. The online translation service reported a false positive. Aoife’s operation was canceled but she was still concerned about the risk of cancer.

False positive results can occur for a number of reasons. Quality control for DTC genetic tests is variable. Some tests may be more prone to problems than NHS tests, such as “false results” of a sample, where initial analysis detects a particular genetic variant but later testing shows it is an artefact. Particular attention should be paid to results found through third-party translation services. This is because the “raw data” interpreted by such services contains artifacts,13 and the databases used to interpret the data may be out of date (thus misclassifying variables based on outdated evidence).10

The SNP chip genotyping method used by most DTC genetic tests is not reliable for testing very rare disease-causing genetic variants. A recent study

Where Can You Get Genetic Testing Done

Lily was treated for breast cancer in her 40s and her mother died.

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