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Genomic screening detects cancer, heart disease risk in unsuspecting patients
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About 3 million to 4 million unsuspecting Americans have a genetic risk for cancer or heart disease that could be identified through routine genomic screening, according to a paper published in Annals of Internal Medicine.
Although current implementation models that demonstrate clinical utility for routine genomic screening are promising, they are still preliminary, Michael F. Murray, MD, from Yale School of Medicine, wrote.
Current medical management would not be significantly changed for most patients undergoing genomic screening, according to Murray. However, the benefit to the small percentage of patients who do have a meaningful finding via genomic screening would be substantial and possibly lifesaving, he wrote.
Early reports suggest that the Geisinger GenomeFIRST approach, which offered genomic screening to more than 100,000 volunteers, identified subclinical disease and inspired essential medical interventions, according to Murray.
There is a lack of cohesive models for incorporating genomic screening in routine care, he wrote. Additionally, opportunities are being missed to progress knowledge of clinical utility, he wrote.
Genomic screening could detect an identifiable genetic risk for cancer or heart disease in at least 1% of the U.S. population, Murray wrote. Physicians should strive to identify those 3 million to 4 million people to clinically manage and mitigate their risk by developing functioning implementation models, he wrote.
“Achieving [these goals] is made even more attractive by the promise of a broader population benefit once the stage is set with an established infrastructure ready to implement additional knowledge in the decades ahead,” Murray concluded.
“There should be little doubt that individually tailored health care management plans based on DNA analysis are coming, but the timing of their introduction into routine clinical care is contingent on further demonstrations of clinical utility and proven implementation models,” he added. – by Alaina Tedesco
Disclosure: Murray reports being a former employee of Geisinger Health System, receiving grants from Regeneron and participating in Scientific Advisory Board for InVitae.
Perspective
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Andrea Forman, MS, LCGC
Murray et al remind us that broad use of genomic screening tests, while still in its infancy, is increasing in routine medical care and will continue to do so. How to insure this implementation is accomplished in an informed, ethical and outcomes-based way remains a challenge. In addition to increasing genomic competency in primary health care providers, expanding access to genetic specialists, such as genetic counselors, is essential. While there are more than 4,500 genetic counselors in the United States, utilization can be enhanced through alternative delivery models, such as telegenetic services, and improved payor reimbursement for services, such as coverage through CMS.
It is also important to examine limitations of current genetic discrimination laws. The Genetic Information Non-Discrimination Act (GINA) protects employment (in companies with 15 or more employees) and health insurance, but has no protections for life, disability or long-term care insurance. Recent attempts to undermine these protections have focused on “voluntary” employee wellness programs. In our current political climate, at-risk patients have declined genetic testing over fears of genetic discrimination, even in the setting of known familial mutations. Patients need to be confident that their quest for personalized health care will not cause burdensome financial difficulties. Other considerations should include informed consent, psychosocial support where needed, follow up for inconclusive results, cascade testing for family members, and insurance coverage for appropriate follow up care.
Routine genomic screening is clearly on the horizon, but there are significant challenges that must be addressed in order to minimize potential harms to patients.
References:
Benjamin CM, et al. Cochrane Database Syst Rev. 2015;doi:10.1002/14651858.CD011873.
Genome.gov. The Genetic Information Nondiscrimination Act of 2008. https://www.genome.gov/27568492/the-genetic-information-nondiscrimination-act-of-2008/.
Genomeweb.com. Reluctance to Learn Genetic Risk for Cancer Grows With Affordable Care Act Repeal Fears. https://www.genomeweb.com/molecular-diagnostics/reluctance-learn-genetic-risk-cancer-grows-affordable-care-act-repeal-fears#.W14bjdJKg2w
Hudson KL, Pollitz K. N Engl J Med 2017;doi:10.1056/NEJMp1705283.
Perspective
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Erica Ramos, MS, LCGC
How genomics will revolutionize health care is hotly debated. However, one thing appears certain — genomics will touch every area of health care.
Murray et al’s opinion piece proposes that the next big opportunity for genomics to impact patient health is routine genomic screening in primary care, already underway at some institutions. Primary care providers and genetics specialists alike must adapt to serve millions of high-risk patients and ensure access to downstream services.
Multiple studies report most PCPs don’t feel fully prepared to address genomic information. However, they should recognize three critical things: they already manage population-level screening, managing results for complex disorders isn’t unique to genomics and they have support.
Consider the multitude of results one gets when working up shortness of breath or chest pain. Some fall within the PCP’s expertise, others require referral to specialists for management. Genomics, even population screening, is no different.
To execute a successful population genomic screening effort, PCPs would need to discuss and order testing and report results. An initial test would likely include a small, defined subset of genes impacting clinically-actionable diseases and about 1% to 4% would have a pathogenic, disease-causing variant.
The robust infrastructure needed to prepare and support PCPs is also being developed. Groups like the genetic counselor-led ClinGen CADRe Workgroup and National Society of Genetic Counselors are constructing and assessing scalable approaches to optimally combine PCP and genetic counselor efforts.
We can (and should) start working collaboratively today to best address genomics in health care tomorrow.
References:
Chambers CV, et al. J Fam Med. 2015;2(2):1-7.
Evenson SA et al. . S D Med.. 2016 Nov69(11):487-93.
Green RC, et al. Am Coll Med Genet Genomics. 2013;4472:1-29.
Kalia SS, et al. Genet Med. 2017;19(2):249-55.
Ormond KE, et al. l. Genet Med. 2018. Available at: http://www.nature.com/articles/s41436-018-0093-6.
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