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December 20, 2021updated 07 Jan 2022 5:51am

Direct-to-Consumer Genetic Tests: Regulatory Trends

Direct-to-consumer genetic testing has been a rapidly expanding market that continues to generate substantial amounts of revenue and public interest.

By GlobalData Thematic Research

The rapid growth of the direct-to-consumer genetic testing (DTC-GT) 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.

Listed below are the key regulatory trends impacting the direct-to-consumer Genomics industry, as identified by GlobalData.

FDA classifies DTC-GT 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, 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, which included the potential risk of false positives, false negatives, and end users erroneously interpreting their results.

Additionally, many of the diseases associated with the 23andMe PGS product require comprehensive clinical evaluations and follow-up testing by healthcare professionals in order to be diagnosed. For these diseases, the FDA concluded that the likelihood of 23andMe results being misinterpreted was low. Greater concern was expressed regarding the 23andMe PGS BRCA1/2 product. Over 1,000 BRCA1/2 mutations have been identified to date. However, the 23andMe product only analyses three BRCA1/2 variants, which are commonly found in people of Ashkenazi Jewish heritage but rarely affect individuals of other ethnicities.

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 DTC-GT 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 DTC-GT is that it will encourage them to seek genetic counselling and/or clinical laboratory testing via their healthcare provider. In other words, it is generally accepted that high-risk individuals should undergo more thorough and in-depth testing that current direct-to-consumer products cannot provide.

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.

Some members of the medical community have expressed concern that LDTs now represent a regulatory workaround or loophole that is being exploited by numerous test manufacturers. As a result, it has been suggested that additional legislation be introduced in the coming years to improve US regulation of in vitro clinical devices.

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

In June 2018, the FDA published a notice exempting certain DTC-GT from requiring 510(k) premarket approval. Specifically, companies such as 23andMe who sell a DTC-GT 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 companies making false claims about that device will still be subjct to FDA sanctions. This exemption will not apply to some higher-risk genetic tests, with the FDA stating: “Tests cannot be offered under this classification regulation that are indicated for prenatal testing; predisposition for cancer where the result of the test may lead to prophylactic screening, confirmatory procedures, or treatments that may incur morbidity or mortality to the patient; assessing the presence of genetic variants that impact the metabolism, exposure, response, risk of adverse events, dosing, or mechanisms of prescription or over-the-counter (OTC) medications; or assessing the presence of deterministic autosomal dominant variants”.

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. The FDA has further stated that it does not generally review traits and wellness tests or ancestry tests.

Genetic Information Non-discrimination Act, US

The Genetic Information Non-discrimination 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, in order 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. However, these plans have additional policies in place to prevent discrimination on the basis of genetic information.

This is an edited extract from the Direct-to-Consumer Genetic Tests – Thematic Research report produced by GlobalData Thematic Research.

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