Geneticists recommend seeking clinical test validation as a recent study finds up to 40 percent of at-home genetic tests to be inaccurate.
The study leader expressed concern about the fact that most DTC test results are interpreted by medical providers with limited genetic training due to a shortage of genetic counselors and other highly trained genetic professionals available for public consultation.
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
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‘This study demonstrates the importance of confirming direct-to-customer (DTC) genetic test results in a clinical laboratory that is well versed in both complex variant detection and classification.’
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Direct-to-consumer genetic tests (DTC) are available for the public to purchase and are often advertised on television or websites. These tests usually promise to uncover information about a person's ancestry, risk of developing certain conditions, or of being a carrier of specific autosomal recessive diseases. Such tests can also be used to predict how someone might respond to certain drugs.
However, unlike clinical genetic tests carried out in a laboratory, DTC tests are not diagnostic and only offer risk information for a limited set of conditions. In the USA, their use is restricted by the Food and Drug Administration (FDA). While the FDA currently prohibits most DTC companies from offering diagnostic genetic tests, some do give customers their raw genotyping data upon request. This can then be taken to third-party companies to interpret for a fee. The raw data provided to the customer is often accompanied by a disclaimer that it is neither validated for accuracy nor intended for medical use.
![Birth Defect - Genetic]( "Birth Defect - Genetic")
Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism
Tandy-Connor and her colleagues set out to assess how accurate DTC tests were in highlighting the presence of specific genetic variants. They analyzed the raw data of 49 patients that were referred to Ambry Genetics Corp for confirmatory testing, after sharing their DTC raw data results with their medical providers.
The researchers found that two out of every five (40 percent) variants noted in the DTC raw data were incorrectly reported and could not be verified by further diagnostic lab tests. In eight instances, the variants that were present were misunderstood by third-party interpretation services.
"Such a high rate of false positives in this particular study was unexpected," says Tandy-Connor, who believes that some of the discrepancies in the results can be explained by technical differences between the various testing methods used. "While DTC results may lead to healthy changes in lifestyle or diet, these could also result in unwarranted emotions, including anxiety when someone obtains unexpected information, inaccurate information, or disappointment when receiving a lack of comprehensive diagnostic analysis."
Although conducted using only a small sample, the study is of importance as it is the first to report the discrepancies in the raw data results of DTC tests compared to lab-based diagnostic gene tests.
"The relatively small cohort simply reflects the reality that most people who get such DTC results don't seek confirmatory testing," says Tandy-Connor. "People may assume that they are being provided accurate medical grade testing, so understandably do not go to the trouble and expense of seeking confirmation."
The complete research is published in the journal Genetics in Medicine an official journal of the American College of Medical Genetics and Genomics.
Source: Eurekalert
Birth Defect - Genetic
Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism
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Tandy-Connor and her colleagues set out to assess how accurate DTC tests were in highlighting the presence of specific genetic variants. They analyzed the raw data of 49 patients that were referred to Ambry Genetics Corp for confirmatory testing, after sharing their DTC raw data results with their medical providers.
The researchers found that two out of every five (40 percent) variants noted in the DTC raw data were incorrectly reported and could not be verified by further diagnostic lab tests. In eight instances, the variants that were present were misunderstood by third-party interpretation services.
"Such a high rate of false positives in this particular study was unexpected," says Tandy-Connor, who believes that some of the discrepancies in the results can be explained by technical differences between the various testing methods used. "While DTC results may lead to healthy changes in lifestyle or diet, these could also result in unwarranted emotions, including anxiety when someone obtains unexpected information, inaccurate information, or disappointment when receiving a lack of comprehensive diagnostic analysis."
Although conducted using only a small sample, the study is of importance as it is the first to report the discrepancies in the raw data results of DTC tests compared to lab-based diagnostic gene tests.
"The relatively small cohort simply reflects the reality that most people who get such DTC results don't seek confirmatory testing," says Tandy-Connor. "People may assume that they are being provided accurate medical grade testing, so understandably do not go to the trouble and expense of seeking confirmation."
The complete research is published in the journal Genetics in Medicine an official journal of the American College of Medical Genetics and Genomics.
Source: Eurekalert
Epigenetics
In the recent years 'epigenetics' represents inheritable changes in gene expression that do not include DNA alterations.
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 Genetics of Alzheimer´s diseaseThere are numerous genes that have been discovered that are associated with Alzheimer's disease and indicate increased risk, aiding genetic counseling and better care. | Advertisement
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