While the promise of genetic testing has the potential to transform healthcare diagnosis and treatment, oncologists said the practice in its current state is not clinically beneficial for cancer patients, a new survey found.
More health systems are investing in genomics and precision medicine, touting it as the next big breakthrough.
Healthcare providers are sequencing patients' DNA and matching it to known genetically related conditions, allowing them to identify the development of diseases such as cancer sooner and avoid more expensive treatments down the road. Genetic testing gives providers, drug companies and clinicians new tools to fight, control and, in some cases, cure some forms of cancer.
Yet, genetic testing has a number of hurdles to overcome before oncologists feel comfortable using it on a widespread basis, according to the Medscape Physician Oncology Report on Genomics Testing survey published on Tuesday, which gathered insight from 132 oncologists who sequence multiple genes or the entire tumor gene.
Oncologists said the biggest factor preventing them from conducting widespread genomic testing of their patients is the lack of evidence to show approved therapies will work for the vast majority of mutations. There are also obstacles when it comes to the uncertain reimbursement model and turnaround time, they said.
"At this point, it's not something that is clearly an evidence-based standard of care," said Dr. Jack West, medical director of the thoracic oncology program at Swedish Cancer Institute in Seattle, who led the study. "Oncologists are really struggling with the discordance—with the promise of genomic testing as a concept and the more disappointing reality of its applicability for only a small minority of clinicians."
Nearly two-thirds of survey respondents said genomic testing would benefit treatment in fewer than 25% of their oncology cases. Still, 64% feel the testing is useful, and the majority will order them when traditional care isn't working, while 89% said such testing will be a standard component for treatment in the next 10 years.
Clinically actionable genetic test results are not always obtainable in a timely and cost-effective fashion, said Dr. Stuart Goldberg, a practicing oncologist at the John Theurer Cancer Center and the chief medical officer at Cancer Outcomes Tracking and Analysis, a digital platform that aims to categorize patient factors, and their diseases and intended therapies to enable precision medicine.
"We are increasingly identifying mutations in the cancer specimens, but we don't usually have the tools to fight back the mutations," he said.
While the cost has come down since work on sequencing the human genome was completed in 2003, it still can be quite high. Most insurers will cover the cost of testing for a limited panel of genes if the genes have FDA-approved targeted therapy available, Goldberg said. But patients may have to bear the cost of broader genomic tests that aren't FDA approved and physicians, without clear direction, are hesitant to order them.
Gaps in available treatment options, especially the lack of reimbursement for "off-label" use of medications against genomic targets or a dearth of clinical trials, "may slow progress or even stall the promises of genomic information," Goldberg said.
Genetic testing can be an important tool to keep communities healthy, especially as providers face population health initiatives and risk-based payment contracts, healthcare experts said. Yet, some comprehensive studies are needed to demonstrate that broad genomic testing informs treatments that definitively improve outcomes, West said.
"This is a key platform of precision medicine, but at this time still we're still getting the infrastructure ready," he said. "We don't have knowledge base or experience yet, but I am optimistic genomic testing will be crucial."
