New Collaboration Aims to Make Genetic Testing More Accessible

If you have a family history of high cholesterol, heart disease, or certain cancers, genetic screening tests can help you figure out your future risk of developing these diseases. Two companies are now banding together in hopes of making these tests more useful and accessible to all.

In an April 8 press release, the Invitae Corporation, a leader in genetic screening tests, announced it will be collaborating with eMERGE, an National Institutes of Health (NIH)-funded network of clinical sites in the U.S. devoted to improving research into genetics and health.

Invitae will provide genetic screening for coronary artery disease (CAD) and hereditary forms of breast, ovarian, and colon cancer to 25,000 people over five years. If a person’s test results indicate that they are at a higher risk for conditions, Invitae will also offer to screen their family members.

Through the partnership, the researchers hope to gain insight into the link between genetics and health—especially in people from racial and ethnic minorities. They also aim to determine clinical best practices for routine genetic screening. 

What Is Population-Based Screening?

Population-based screening identifies inherited changes in DNA that could predispose a person to health conditions with a known family history of the condition. Invitae uses a technology called next-generation sequencing which “proofreads” a person’s entire genetic code, looking for any genetic variations that are linked to disease.

“DNA-based population screening is intended for adults who want access to their hereditary disease risk as part of their routine healthcare,” Robert Nussbaum, MD, Invitae’s Chief Medical Officer, tells Verywell. “Our testing is focused on providing information about an individual’s genetic makeup that is related to their risk for developing a disease. Invitae only offers genetic testing that is focused on medical conditions, disease risk, and variations that impact how an individual responds to prescription medication.”

What Are the Benefits of DNA-Based Screening?

If a person finds out through testing that they have a genetic predisposition to a certain disease, they can choose to take proactive, preventive measures, such as early detection screenings.

“With the broad implementation of DNA-based population screening, we will be better able to provide individuals with hereditary risk information that can help guide their healthcare and the healthcare of their family members,” Nussbaum says. “It is then also possible to implement preventative measures more broadly in clinical practice that can help prevent disease or catch it at the earliest, most treatable stage.”

For example, a woman with a family history of breast cancer and a positive BRACA1 or BRACA2 gene mutation has about a 70% chance of developing breast cancer in her lifetime.

A woman with these risk factors could talk to her physician about the benefits of using non-hormonal contraceptives or starting mammograms at an earlier age. She could also opt to have an elective mastectomy to eliminate her chances of ever developing breast cancer.

Combatting Health Disparities

Nussbaum says that people from racial and ethnic minorities, in particular, stand to benefit from population-based screening.

“Numerous studies exist detailing serious health disparities among minority populations,” Nussbaum says. “These disparities are also seen in the current data sets of collected genetic information, which are often overwhelmingly skewed towards people of European ancestry.”

But this latest collaboration hopes to reduce that gap in genetic testing and research.

“The eMERGE project carries a strong mandate from the National Institutes of Health to include significant numbers of people from minorities underrepresented in genetics research,” Nussbaum says. “By helping to expand access to testing for more people, we hope to reduce the level of health disparities in underserved populations.”

Creating Screening Recommendations

Invitae’s researchers hope to develop routine genetic disease screening recommendations for physicians to help prevent and manage potentially genetically linked health issues.

“We hope these data generated from the eMERGE study can be used to show best practices for implementing medically responsible and sustainable genomics-based population screening programs as a routine part of medical care for diverse populations,” Nussbaum says.

Increased screening could also lead to earlier detection of hereditary-linked conditions and better outcomes for all patients.

“Many conditions that can have a genetic basis are severely underdiagnosed in the general population,” Nussbaum says. “Even for such a well-known condition as hereditary breast cancer caused by variants in the BRCA1 or BRCA2 genes, less than 20% of people considered eligible for testing based on personal or family history discuss options with their healthcare providers and are offered and receive testing.”

Limitations of Genetic Testing

Nussbaum does point out that genetic testing does not definitively determine whether someone will develop an illness they have the genetic predisposition for. Even still, that does not change the ultimate goal of genetic screening—which is to guide conversations about health between patients and their providers.

“We know that family history alone does not identify all individuals who may have a hereditary disease risk,” Nussbaum says. “Our goal is to make genomic information that can guide healthcare and [become a] routine part of health maintenance, not just treatment of people who are unfortunately already ill. When we implement the use of genetics in assessing disease risk, it can lead to better healthcare for all.”