Bridging the Gap: My Gene Counsel and Ambry Genetics Join Forces in Medical-Grade Direct-to-Consumer Testing

Doctor discussing treatment options with a patient.
Doctor discussing treatment options with a patient.

My Gene Counsel and Ambry Genetics have agreed to to offer the first One-Stop Solution for direct-to-consumer (DTC) genetic test results confirmed through medical-grade testing.

Founded by certified genetic counselors with more than 30 years of clinical experience and leadership in genetic counseling and testing. My Gene Counsel is a HIPAA-compliant digital resource for genetic information and a one-stop-shop to stay on top of advancements tied to personal genetic test results.

Together with Ambry Genetics, a clinical diagnostic company combining comprehensive and high-quality genetic testing, My Gene Counsel will provide proper genetic counseling for consumers determined to be at high risk for hereditary forms of cancer.

?[We’re excited about this agreement because] Ambry Genetics [is] committed to delivering the most accurate genetic testing for hereditary cancer,? said Ellen Matloff, President and CEO of My Gene Counsel.

?[The company] has long been a leader in this area, and they are now the leader again in creating a path for consumers to confirm their results,? Matloff added.

Public interest

Direct-to-consumer (DTC) genetic tests are advertised and sold directly to the public. The tests are generally designed to offer information that may include ancestry, risks of developing certain conditions, carrier status for autosomal recessive diseases, predicted drug response, and nondisease phenotypic traits such as eye color.

In addition, a growing interest in human genetics and personalized health care, has also resulted in the increased demand for these ‘home tests,’ and a variety of companies, including Family Tree DNA, My Heritage, 23andMe, and AncestryDNA, are offering ‘home tests’ designed to provide genetic information to individual people who otherwise may never have been tested due to circumstances such as lack of a family history of disease, inaccessibility of clinical genetic testing, prohibitive cost, or poor insurance coverage. [1]

Misinterpretation

These direct-to-consumer ‘home tests’ are, however, not the same as clinical genetic tests, designed diagnose disease. Furthermore, ‘home tests’ offer risk information for only a limited set of conditions.

The growing public interest for direct-to-conumer genetic tests has been accompanied by an increasing controversy regarding a high number of false positive results, incorrectly indicating a disease is present.

According to a recent analysis by scientists at Ambry Genetics, published in Genetics in Medicine, 40% of variants in a variety of genes reported in DTC raw data were false positives. The analysis also indicated that the 17% of variants in raw data from ‘home tests’ were misinterpreted as “high-risk” or “increased risk” classification. However, the same raw data was classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases. [1]

?Our results demonstrate the importance of confirming direct-to-consumer raw data variants in a clinical laboratory that is experienced in both complex variant detection and classification,? said Brigette Tippin Davis, Ph.D., FACMG, Senior Vice President of Research & Development of Ambry Genetics.

?Both false-positive results and misclassification of variants can result in significant implications for an individual, including unnecessary stress, medical procedures, and testing of family members. Together, with My Gene Counsel we’re providing a unique solution that will help alleviate these problems,? she added.

The program is for consumers who have taken a direct-to-consumer genetic test, have a personal or family history of cancer, and still have unresolved questions. This includes consumers with a strong history of cancer who received negative testing results.

As part of thos program, My Gene Counsel offers a limited number of free subscriptions to their service and genetic counseling. Consumers may also be eligible to receive free confirmatory verification testing through their insurance provider if they meet criteria.

References

[1] Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38.[PubMed][Article]


Last Editorial Review: March 18, 2019

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