My Gene Counsel and Ambry Genetics Are Focused on Medical-Grade Genetic Testing

Samara Rosenfeld
MARCH 20, 2019
test tubes

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

In addition to One-Stop, My Gene Counsel and Ambry Genetics will provide genetic counseling for consumers that are at high risk for hereditary forms of cancer.

The solution will allow eligible consumers to submit their DTC test results to be reviewed by My Gene Counsel. The consumer will then receive a living lab report which walks the individual through the test results that came from the at-home kit, Ellen Matloff, president and CEO of My Gene Counsel, told Inside Digital Health™.

During phone counseling, a genetics counselor will determine if the individual is a candidate for genetic testing, and if they are, they will give a saliva sample that will be tested at Ambry Genetics. Consumers will then receive a final living lab report from My Gene Counsel, and the results are shared with the individual's physician.

DTC genetic tests are on the rise, with more than 14 million people already taking a DTC test, and an estimated 100 million people likely to test by 2021.

But there is an increasing controversy over the high number of false positive results associated with DTC tests, which incorrectly indicate that a disease is present.

In a 2018 study conducted by Ambry Genetics on gene variants reported in the raw data of DTC genetic testing, the clinical diagnostic and software solutions company found a 40 percent false positive rate and that 17 percent of variants in raw data from DTC tests were misinterpreted as high-risk.

Privacy is also vague with genetic testing.

DTC genetic testing companies such as 23andMe have produced so much genetic data, which they typically sell or give to third parties with customer permission. Broader data privacy concerns came about due to incidents like the Facebook-Cambridge Analytica scandal — when individual’s Facebook data were obtained and used to identify the personalities of American voters and influence their behavior.

Companies could get rich off patient data, while freely sharing our most personal information.

While there is no hard evidence — yet — that One-Stop will be more accurate than DTC tests, experts have been calling for the use of medical-grade genetic tests over DTC genetic tests.

The promise of medical-grade genetic testing is that the test is ordered by a healthcare provider for their patient and is meant to give consumers a more definitive answer about whether or not they have a disease.

Medical-grade genetic tests thoroughly study the entire DNA sequence of genes known to cause a disease and the results are carefully analyzed and confirmed by healthcare professionals in medical-grade labs.

The One-Stop solution is meant to be used as a diagnosis prevention treatment by consumers who have taken a DTC genetic test, have a personal or family history of cancer and still have unresolved questions.

“There is an unmet need in the field for people who took a DTC test and get cancer-related findings that need to be confirmed, or for people who have a strong history who come back negative on DTC tests and need to learn if the results are accurate,” Matloff told us.

My Gene Counsel and Ambry Genetics claim that their One-Stop solution will reduce false positive results and misclassification of variants, which could limit unnecessary stress, medical procedures and testing of family members.

One-Stop can be a solution for consumers, providers and insurance companies alike, Matloff said.

My Gene Counsel and Ambry Genetics are focused on cancer right now, they plan to expand to other areas in the future.

“We as providers can no longer afford to ignore DTC test results, even if it's disruptive, even if it takes time and even if we don’t understand them,” Matloff said.

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