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With our ever expanding genetic knowledge and the increasing number of molecular tests available, coupled with the decreasing cost to obtain results, it is not surprising to see genetic tests offered in primary care practices.  Last year saw expansion of genetic test availability in several health systems at the primary care level. 


At Geisinger Health, their offering is based upon the results of 10+ years of research. The genetic testing offered examines susceptibility for specific actionable diseases and documented responses to pharmaceuticals.  The goal of this initial program is to offer the DNA sequencing to 1000 patients with the goal to eventually extend the program.  Prior research at Geisinger indicated that about 3.5% of tested patients have a genetic variant that could result in a medical problem for which clinicians can recommend steps to positively influence health.  The results of all screening are entered into the patient medical record for utilization over the course of the patient’s life. 

We are accustomed to genetic testing having a vital role in our diagnostic armamentaria for certain inherited syndromes, in prenatal testing and newborn screening and its major role in oncology therapeutics.  We generally understand such utilization as being in the scope of practice of specialists.  The increasing availability of molecular testing in primary care is a new arena in the era of personalized medicine.

There have been concerns expressed that much of the molecular testing is still in its infancy and, like any new medical procedure, comes with unknowns.  Many times molecular testing does not give clear cut answers.  In addition, many primary care physicians are reluctant to order this type testing because of a knowledge gap in test ordering and interpretation and the given time constraints of a primary care office visit. 

A 2018 survey published in Health Affairs queried 500 primary care physicians and found that only 25% of respondents said they felt prepared to work with patients who had genetic testing for a common disease.  14% reported they were confident they could interpret genetic test results.

Christa Lese Martin, PhD, FACMG, DABMGG, scientific director of the MyCode Population Health Screening Program at Geisinger has explained how the Geisinger DNA screening is introduced to patients and providers.  “Geisinger physicians are not asked to do this in isolation.  They have tools built by genetics experts and the support of our team of certified genetic counselors.  For the population health screening initiative, patients are given a brochure about the testing and then the primary care providers discuss and order the test”. 

Given that the physicians at Geisinger have received prior education to assist them in the ordering and interpretation of these tests, targeted mutations have been carefully selected to be actionable. Negative screening results are accompanied by a letter of explanation and positive screening results have availability of genetic counselors to assist with next steps. This appears to be an ideal model for the introduction of Personalized Medicine into a primary care practice. 

Unfortunately, for many of us we are not in a health care environment with a strong molecular structure including genetic counselors and molecular doctorate level professionals to provide advice.   In addition, because there may be a lack of an IT infrastructure that can support the reporting and provision of interpretative materials for both ourselves and our patients, these tests can pose quite a difficult endeavor.  However, If the latter is your situation, keep in mind that there are reference laboratories that can provide assistance and advice as you become increasingly involved with Personalized Medicine practices. 

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About the author

Dr. John Daly

John T. Daly, M.D. received his MD degree at Weill Cornell University Medical College, performed his internship and residency in Anatomic and Clinical pathology at Duke University Medical Center and a residency in Forensic Pathology at the Office of the Chief Medical Examiner in Chapel Hill, N.C. He is board certified in anatomic, clinical and forensic pathology. Through the course of his career, Dr. Daly has had extensive experience directing and advising laboratories of all sizes including physician office practices, Federal Health Clinics, surgical centers, Community Hospitals and the integrated academic health system clinical laboratories of Duke Medicine. He retired as Director of Laboratories of Duke Medicine, and continues his affiliation as a member of the emeritus staff.


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