The at-home genetic testing firm 23andMe recently made headlines after signing an agreement to share its genetic and phenotypic database with the pharma giant GlaxoSmithKline (GSK). However, the multi-year collaboration deal – announced in late July – was met with much contention due to privacy concerns.
23andMe is no stranger to scrutiny: The company received a warning letter from the US FDA in 2013, with the agency citing concerns over uses of its personal genome service (PGS). Specifically, the FDA cited assessments for BRCA-related genetic risk and drug responses. Though in 2017 the company eventually received FDA approval for the direct-to-consumer tests.
“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health. “But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”
In the release announcing the decision, the FDA stated: “Excluded from today’s marketing authorization and any future, related exemption are [Genetic Health Risk] GHR tests that function as diagnostic tests.”
The agency cited the genetic test for BRCA, for which a positive result may lead to prophylactic surgical removal of breasts or ovaries.
However, a year later on March 6, 2018, the FDA granted 23andMe marketing approval for a test to report on three specific BRCA1/BRCA2 breast cancer gene mutations. Importantly, the test only reports 3 out of more than 1,000 known BRCA mutations and a negative result does not rule out increased cancer risk.
Why is this important?
I first sat down with a genetic counselor during my freshman year of college after my father found out he was a BRCA2 gene mutation carrier.
My sister and I were talked through our family tree marked with aunts, cousins, grandparents, all who had suffered, and in some cases, died, from breast or ovarian cancer.
Working with a genetic counselor helped me and my sister understand what to expect from the process and what testing positive for the gene mutation could mean moving forward.
With a 50/50 chance, my sister said she knew it would be her, and it was. Since the age of 24 she has been screened for breast cancer twice a year.
The empowered patient
Several proponents of at-home genetic testing claim it empowers patients with access to information they may not have access to otherwise. While this very may well be true, it also has the potential to create confusion and panic.
Speaking with WCG Chief Medical Officer Lindsay McNair, she noted the significance of genetic testing results to the individual, but also to their family members.
“Genetic counseling is essential to ensure that any test results are acted upon in an appropriate way," McNair told us.
Recently, there has been an emphasis on partnering with patient communities during the clinical research planning process. This includes conducting trials that consider the patient experience, “and respecting, and empowering patients and trial participants,” said McNair.
The National Academy of Sciences, Engineering, and Medicine emphasized this in its recommendations about returning study results to research participants. The report specifically mentioned return of the results of genetic testing done as part of clinical research, McNair explained.
“But providing information to research participants that they may not know how to understand or interpret isn’t empowering them,” she said, “we have to make sure that they are also provided with the tools to use that information in making decisions about their health, and potentially even about the health of their family members.”
Genetic testing in clinical research
The proposition of the 23andME and GSK partnership is that it will accelerate drug discovery and development – and it very well might. How this will play out remains to be seen.
This specific example aside, the health care industry – including pharmaceutical companies and contract research organization (CROs) such as WCG – is increasingly using genetic testing in clinical practice and clinical trials.
WCG earlier this year established a new center for genetics and precision medicine in clinical trials in collaboration with InformedDNA, a genetic counseling and genetic benefits management company based in Florida.
As McNair explained, the uptake follows the rapid expansion of our understanding of genetics, genomics, and the role of genetic markers in disease processes.
“Biopharma companies are most often using genetic data, for identification of a patient population, or for selection of a sub-group of a patient population most likely to have an optimal response to a specific therapy.”
Yet, one of the challenges of the increasing integration of genetic testing in clinical trials is ensuring clinical development teams are trained in the “rapidly-advancing field,” McNair added.
“Another key challenge is for biopharma companies and CROs to ensure that they have a mechanism to provide appropriate genetic counseling to potential study participants who may have testing as part of a study screening process, or when unexpected genetic findings with potential clinical implications occur during study procedures,” she said.
As consumer genetic tests proliferate in the marketplace, it is essential that counseling is considered an integral part of the process to avoid misleading or confusing the public. Companies must shoulder this responsibility to provide as full a picture as possible to patients, and improve their ability to make informed decisions about their health and their futures.
Melissa Fassbender is the editor of Outsourcing-Pharma. You can reach her at Melissa.Fassbender(at)wrbm.com or on Twitter @melfass.
