By Liat Goldberg
December 15, 2020 | There is no question that genetic/genomic testing rapidly is becoming the gold standard of care, across clinical specialties and care settings. Forward-looking healthcare leaders recognize that they need to evaluate the technologies and workflows required to maximize the value they harvest from the overwhelmingly rich and complex knowledge that testing provides.
It has become equally clear that electronic medical records (EMR) alone do not provide the functionality necessary to optimize this yield. Clinical information documented in the EMR represents a “snapshot in time,” insights that inform a current episode of care or serve as a simple reference for longer term trending and identification of chronic conditions. Genetic information, on the other hand, serves as the patient’s lifelong signature. It can—and should—be referenced and interrogated by providers for years and decades into the future.
Secondly, genetic/genomic test results are returned in a vocabulary different than the clinical lexicon familiar to physicians. EMRs are not designed to create a clinical-genomic ontology that makes the data meaningful and useful at the point of care. In addition, the volume of data generated through molecular testing requires informatics and management of a higher magnitude than previously required.
Among the misconceptions that have impeded precision medicine adoption is the falsely held belief that genetic and genomic testing—and resulting clinical workflows—delivers greatest value to a limited number of specialties such as oncology and rare diseases. Nothing could be further from the truth. No doubt precision medicine will help specialists arrive at highly precise diagnoses and identify targeted therapies most likely to deliver optimal therapeutic benefit, but precision medicine is equally valuable in front-line specialties such as family physicians, internists and Ob-Gyns. They are in the position, for instance, to collect and compile comprehensive family histories to identify which patients are at greatest risk for heritable conditions ranging from cancer, to cardiovascular disease, to endocrine disorders, to neurologic syndromes… and beyond. Nor should the role of the primary care provider (PCP) as a trusted advisor to patients be underestimated. Results from genetic/genomic testing can cause great anxiety and be difficult for patients to comprehend. Clinicians who have served as the primary provider over many years are in the best position to help patients navigate this unfamiliar terrain.
One of my colleagues, Leah, offers a poignant and compelling case in point. Leah has been highly attuned to her family history of breast cancer since childhood, having lost various relatives including her grandmother and an uncle to the disease. As a teenager, she served as primary care giver for her mother during her final months—which initially was diagnosed only weeks after Leah’s father’s death. She was first-hand witness to the physical ravages of cancer and toxic treatments, as well as the emotional and mental devastation that impacted the entire family.
Through the help of healthcare professionals with whom she had long-standing relationships, Leah explored options for pursuing genetic testing to help assess her own risk level. After these consultations, Leah decided to forego testing until after marriage and childbearing. “I knew that I wasn’t ready to be proactive if my test results came back with devastating news,” she said. “My clinical friends recommended I not get tested unless I was sure of what I would do in response.”
After the birth of children, Leah developed a suspicious ovarian cyst and, after consulting with her gynecologist and oncologist who were concerned about her pedigree, decided to undergo testing. Receiving the report she half expect but nevertheless dreaded—BRCA2 positive—Leah opted for prophylactic double mastectomy and oophorectomy.
“I’ve never looked back,” she said, adding that the availability of tests and the counsel of physicians with whom she had close relationships were critical. “I knew I didn’t want my family to go through what I went through.”
Her sister took a different path, eschewing genetic counseling and testing. She was diagnosed with breast cancer four years ago and unfortunately will have to deal with treatment repercussions and the fear of recurrence the rest of her life.
Leah’s story is an object lesson for all of healthcare. Precision medicine is an empowering new paradigm and an important tool for improved patient engagement. The rise in FDA-approved direct-to-consumer tests and the public’s avid appetite for them portend rapid growth. Providers have a rare window of opportunity not only to improve quality of care and clinical outcomes, but also to help patients become true partners in decision making around their risk for heritable disease and the actions they may want to take with information provided through testing.
To leverage this opportunity, however, healthcare organizations must ensure they adopt an advanced strategy for genetic/genomic data governance, management, and sharing than the approach traditional to EMRs. Solutions that offer functionality above the EMR and integrate with a wide variety of genetic labs ensure genomic data can be stored discreetly and made available at the point of care for meaningful decision making. They allow pedigree information to be centralized so it can be used by clinicians across the enterprise. Additionally, this type of platform delivers testing results into the workflow so it can be used in real time for diagnosis and treatment as needed over the patient’s lifetime.
Liat Goldberg, PhD, has deep background in cancer research, from basic science to pre-clinical and clinical data interpretation for solid tumors and hematopoietic malignancies. Likewise, her experience spans cellular and molecular biology, including bioinformatic analysis of genomic and transcriptomic data. An expert in variant analysis and interpretation for both inherited disorders and cancer, Dr. Goldberg currently serves as Lead Precision Medicine Scientist for 2bPrecise. She can be reached at liat.goldberg@2bPreciseHealth.com.