Direct-to-consumer testing is driving the genomics market. The rapid growth of the market has historically been accompanied by regulatory limitations on the extent of consumer health information these services can provide. It has also recently gained public scrutiny over privacy concerns of the handling of consumers’ genomic data by the service providers.

Genomics Regulatory Trends

Listed below are the key regulatory trends impacting the genomics industry, as identified by GlobalData.

Genomics – FDA classifies direct-to-consumer genetic tests as class II medical devices

The US Food and Drug Administration (FDA) classified 23andMe’s personal genome service (PGS) genetic health risk report for ten separate diseases as a class II medical device in April 2017. These were: Hereditary Thrombophilia, Alpha-1 Antitrypsin Deficiency, Alzheimer’s Disease, Parkinson’s Disease, Gaucher Disease Type 1, Factor XI Deficiency, Celiac Disease, glucose-6-phosphate-dehydrogenase (G6PD) Deficiency, Hereditary Hemochromatosis, and Early-Onset Primary Dystonia. In April 2018, the 23andMe PGS for BRCA1/2 was then also classified as a class II medical device. As only class III medical devices require FDA approval before they can be marketed, this allows 23andMe to sell its products within the US without the need for physician oversight.

Throughout its review, the FDA identified several risks associated with the 23andMe products. These were the potential risk of false positives, the potential risk of false negatives, and the risk that end users will erroneously interpret their results.  The FDA also expressed concern that false positive results could cause patients anxiety or depression, as well as cause them to make inappropriate lifestyle choices and reproductive decisions. As part of its decision, the FDA specified that any positive test results obtained by the 23andMe PGS BRCA1/2 product should be confirmed in a clinical setting prior to any medical intervention.

The FDA’s concern regarding a lack of understanding by end users is slightly more complex. The FDA noted that this concern could be mitigated by user comprehension studies, adequate labelling, and special controls. Greater concern was expressed regarding the 23andMe PGS BRCA1/2 product. Over 1,000 BRCA1/2 mutations have been identified to date. As such, the FDA expressed concern that individuals may underestimate their risk of disease if they test negative using the 23andMe product, as these people may not realise that there are many other possible BRCA1/2 mutations, for which they still may test positive.

Laboratory-developed tests (LDTs) sold with physician oversight

Many companies that offer direct-to-consumer genetic testing do so as an LDT, which requires physician oversight. In this business model, the end user is required to fill out a questionnaire considering their medical history when they order that report. This medical history is then reviewed by a physician who aims to identify high-risk individuals, who will then be precluded from taking the test. The intention of excluding high-risk individuals from ordering direct-to-consumer genetic test is that it will encourage them to seek genetic counselling and/or clinical laboratory testing via their healthcare provider.

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Currently, the FDA does not require companies to seek regulatory authorisation if they are providing LDTs to patients only when prescribed by a physician. Numerous individuals have commented that this discretionary approach to premarket review by the FDA was adopted in earlier years under different circumstances, for products that were never intended to be marketed on a national scale.

FDA exempts subsequent genetic testing devices from 510(k) premarket approval

In June 2018, the FDA published a notice exempting certain direct-to-consumer genetic tests from requiring 510(k) premarket approval. Specifically, companies such as 23andMe who sell a direct-to-consumer genetic testing device that has already undergone a one-time premarket review will no longer be required to submit a 510(k) for subsequent devices they develop.

In this notice, the FDA stated that companies will still be required to meet the same standards as before, such as special controls and user comprehension studies, which are specified in the regulation. Additionally, any company making false claims about that device will still be subject to FDA sanctions. This exemption will not apply to some higher-risk genetic tests.

FDA exempts subsequent genetic testing devices from 510(k) premarket approval

The FDA has declared carrier screening tests exempt from FDA premarket review. These devices do not need to comply with 510(k) requirements; however, they do still need to comply with the necessary regulatory controls.

Genetic Information Nondiscrimination Act, US

The Genetic Information Nondiscrimination Act (GINA) is a US federal legislation that was signed into law on 21 May 2008 and prohibits the discrimination of individuals based on genetic information, with respect to health insurance and employment. This legislation makes it illegal for health insurance providers to require or use genetic information to make decisions about customer eligibility, premiums, contribution amounts, or coverage.

GINA applies to the majority of health insurance providers in the US, including insurance that is obtained through employment, purchased individually, and Medicare. Health insurance plans that are not subject to GINA include certain military and veteran plans, the Indian Health Service, and federal employee health benefit plans.

This is an edited extract from the Genomics in Medical Devices – Thematic Research report produced by GlobalData Thematic Research.