Building on two decades of cutting-edge research, Brigham geneticists and genetic counselors have launched the Preventive Genomics Clinic, the nation’s first academically affiliated clinical service to provide comprehensive DNA sequencing, interpretation and reporting of disease-associated genes for healthy adults and their children who seek to understand and mitigate their risk of future disease.
“Preventive genomics is not yet recommended as standard of care,” said Robert C. Green, MD, MPH, a medical geneticist in the Division of Genetics and director of the new clinic. “But for over two decades, our federally funded, randomized trials in translational genomics have generated consistent evidence that there are more potential medical benefits and fewer risks than previously considered. It is time for this technology to be offered in a clinical context, under the care of genetics experts, to individuals who wish to be proactive about their health.”
The Preventive Genomics Clinic differs from consumer-facing laboratory offerings in several respects. Patients are evaluated in person by genetics specialists before testing is ordered, and the team helps patients select from a menu of the most appropriate laboratories for their medical needs. All medical and laboratory reports are placed in the patient’s medical record, shared with the patient and communicated to their other providers to integrate any relevant findings into their care.
During a patient’s first appointment at the clinic, a board-certified medical geneticist and genetic counselor will collect a personal and family history and conduct a detailed physical examination to evaluate the individual for specific genetic risks that should be pursued with diagnostic genetic tests. Patients are educated about the limitations of preventive genomics as well as the potential for privacy breaches and discrimination.
From there, patients select from a menu of gene panels offered from several different academic and consumer-facing commercial laboratories, with tests ranging from a few hundred genes to a few thousand genes. The most comprehensive of these choices will enable patients to have high-quality, whole-genome sequencing at the Broad Institute, with interpretation and reporting of approximately 3,700 disease-associated genes through the Laboratory for Molecular Medicine in the Partners Personalized Medicine Program.
Patients who have questions about their genetic responses to specific medications can be seen in the Pharmacogenomics Clinic — a new companion clinic at Brigham directed by Joel Krier, MD, Roseann Gammal, PharmD, and Elizabeth Fieg, MS, CGC — that will provide expert consultation for individuals with positive findings.
After receiving their clinical findings, patients obtain referrals to specialists as needed. All are offered the opportunity to enroll in a follow-up study in which Brigham researchers will track key medical, behavioral and economic outcomes of learning genomic information.
The clinic’s genetic testing services are not typically covered by health insurance, but Green and his team are negotiating with lab vendors and raising philanthropic funds to provide free or lower-cost services where needed, particularly for racial- and ethnic-minority patients who have historically been underrepresented in genomics.
Early offerings within the clinic will focus upon disease risks for single gene disorders, particularly hereditary cancers and hereditary heart problems, reproductive risks for those planning to have children, and genetic markers to help avoid medication side effects. The clinic will soon add polygenic risk scores to help identify people at high risk for common conditions, such as heart disease, diabetes and atrial fibrillation.
Building on Research Leadership
The Brigham’s recent leadership in genetics and genomics includes the first federally funded trials to rigorously measure the medical, behavioral and economic impact of comprehensive genome sequencing in adults (the MedSeq Project), newborn infants (the BabySeq Project) and active-duty military personnel (the MilSeq Project).
Green, who leads or co-leads all three projects, and his research team have published over 300 peer-reviewed research papers, many of which specifically detail the methods and outcomes associated with providing genome sequencing to apparently healthy volunteers.
“Dr. Green’s team has helped establish a foundation of scientific evidence for genomic medicine, and the Preventive Genomics Clinic builds upon that robust work,” said Richard Maas, MD, PhD, chief of the Division of Genetics. “The Brigham has a long legacy of providing exceptional care driven by cutting-edge research, and this clinic will accelerate the integration of DNA sequencing into day-to-day medical care. Our hope is that we will increasingly be able to not simply treat diseases, but also to anticipate and prevent them.”