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Primary Care Increasingly on the Front Lines of Clinical Genetics: Standard Practice and Data Concerns

Joel Diamond, MD, FAAFP

August 31, 2021

Disclosures: Dr Diamond is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh, PA, and serves as chief medical officer for 2bPrecise, a fully owned subsidiary of Allscripts. Dr Diamond also owns stock in Allscripts Healthcare.

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Abstract: Many health care leaders find themselves in an unexpected situation as market awareness around precision medicine grows: primary care providers increasingly have become the front line for genetic and genomic testing in their organizations. As a result, clinical leaders are realigning their precision medicine efforts to acknowledge the challenges and optimize the opportunities this paradigm shift represents. To make sure this durable data is able to be understood, shared, and leveraged, health care organizations must consider constructing appropriate and scalable technology systems. 

As market awareness around precision medicine grows, many health care leaders find themselves in an unexpected situation: primary care providers (PCP)-rather than other specialists and subspecialists-increasingly have become the front line for genetic and genomic testing in their organizations. Consequently, clinical leaders are realigning their precision medicine efforts to acknowledge the challenges and optimize the opportunities this paradigm shift represents. As genomic information is quickly defining a new standard of care, primary care and mainstream care ought to embrace these new standards of precision medicine. This article traces the growth of genetic testing and actions needed to utilize this data effectively across the continuum of care.

Responding to Growing Consumer Interest

Numerous factors have contributed to primary care involvement in genetic and genomic testing.1 Chief among them has been interest driven by commercial genetic testing companies like 23andMe and Ancestry.com. These direct-to-consumer (OTC) tests initially focused on individuals’ ethnic and nonclinical characteristics but soon began to boast medically relevant insights. With approval from the Food and Drug Administration, DTC tests related to cancer susceptibility (BRCA 1&2) and medication efficacy and safety (pharmacogenomics, or PGx) were made directly available to consumers.

As could be expected, patients soon began bringing their results into office visits, expecting their PCPs to be able to understand and use test results during clinical decision-
making. 4.s Some providers were caught off balance; not having had in-depth training in genetics/genomics during medical school, they were unable to put clinical context around the test results they were being asked to review. As the initial surprise abated, however, the concept of leveraging the value of precision medicine in primary care practice began to make sense. Because they are the front door of the health care enterprise, PCPs often confront difficult-to-diagnose and unusual conditions. Without a doubt, enabling PCPs to recognize potential genetic illnesses and initiate genetic testing can help the entire care team arrive at an accurate diagnosis sooner and begin the most effective treatment faster. For example, PCPs frequently see patients complaining of heart palpitations and syncope. Initial workup-preceding any referral to a cardiologist or neurologist-might include 24- hour Holter monitoring, echocardiography, and lab tests. Access to a robust pedigree, which could reveal history of family members dying suddenly of arrythmia or cardiomyopathy, could be a valuable tool and prompt the PCP to order a genetic test. Genetic/genomic test results, accompanying a subsequent referral to an electrophysiologist, would enable providers to bypass further expensive and time­consuming tests ( eg, magnetic resonance imaging [MRI], carotid doppler studies, tilt table), and fast-track the patient to effective and possibly lifesaving treatment. The practice of
“rubber stamping” and automatic reliance upon traditional diagnostic workups, in fact, have been found to yield little benefit at great expense.

Facilitating the use of genetic/genomic testing within primary care holds additional benefits beyond assistance during complex differential diagnoses. Pharmacogenomics can be valuable for patients who have failed their first or second line of therapy for many common disorders. PGx insights can help PCPs arrive at effective results sooner in patients treated with antidepressants, antianxiety medications, statins, blood thinners, pain killers, for example. 

As Testing Grows Traditional Resources Become Stretched

Leaders keeping a finger on the pulse of genetic/genomic testing trends can expect to see even more focus on PCPs. Currently, the Genetic Disease Foundation reports more than 6000 genetic disorders that could potentially impact patient health and
wellbeing.1 Research indicates there are more than 75,000 genetic tests available on the market, with 10 new tests added each day.

As the volume of tests grows, costs are dropping precipitously. According to the National Human Genome Research Institute, whole human genome sequencing in mid-2015 cost slightly more than $4000; by late 2015, that figure had fallen below $1500. The cost to generate a whole-exome sequence is generally below $1000.s Testing of limited gene panels are even more inexpensive, some as low as $200.8 Simultaneously, both government and private payers are reimbursing health care entities for costs of testing. Medicare, for instance, covers PGx testing for beneficiaries. United Healthcare, the country’s largest commercial insurer, announced in August 2019 that it would begin covering the use of pharmacogenetic multigene panels to guide therapy decisions for antidepressant and anti psychotic medication when the patient has failed at least one prior medication to treat the condition.

While the volume of testing and knowledge expands exponentially, traditional avenues for test ordering and analysis are being stretched beyond capacity. The Genetic Counselor Workforce Working Group (WFWG) commissioned a workforce supply and demand study of United States-based certified genetic counselors over the period of 2017-2026. Findings verified a current shortage of genetic counselors and noted an equilibrium defined as one genetic counselor per 100,000 patients could not be reached until 2023 or 2024, while equilibrium of one genetic counselor per 75,000 is not attainable until 2029 or 2030. Similarly, research shows that wait times for consultations with medical geneticists are increasing. According to a study published by Genetics in Medicine in January 2019, 62% of geneticists reported their current wait time for a nonemergency new patient appointment was longer than one month. Geneticists working at children’s health care facilities reported the longest wait times for a new patient, nonemergency appointment, with 39.4% estimating wait times to be more than 3 months and 32.1 % saying wait times ranged from 1 to 3 months.

Using Information Technology to Support Precision Medicine in All Care Settings

As these forces converge, it is not surprising to note increased precision medicine activity at the primary care level. Many would say, in fact, that it is desirable.14-16 Results from genetic and genomic tests do not represent a different way to practice good medicine; in reality, they simply represent another data set to be incorporated into clinical decision­ making, just as lab tests and imaging studies are leveraged.

It is likewise worth remembering that genetic/genomic results (ie, germline information) rarely change over the course of a patient’s lifetime. As physicians, we have grown to accept the fact that we must repeat many of the clinical tests we order: complete blood counts, glucose, thyroid-stimulating hormone tests, etc. This is not the case with patient germline information (with the exception of some PGx indicators that change as pediatric patients age past infancy). That means that, if they are made universally available, test results can be re-interrogated multiple times by multiple providers for years into the future. Unlike other lab data, results from a single germline test serve as a long-term clinical resource.

To make sure this durable data is able to be understood, shared, and leveraged, health care organizations must consider constructing appropriate and scalable information technology (IT) systems. Without an IT infrastructure in place to establish and govern an end-to-end clinical-genomic workflow, or manage the vast amounts of information being generated, health care organizations will not be able to respond to this unprecedented opportunity to improve care.

There are multiple examples of how a centralized, strategic approach to precision medicine-beginning with primary care-can deliver value to a health care organization. Consider an infant with a seizure disorder whose condition was correctly diagnosed and managed following genetic testing. Forty years later, lab results during a routine physical reveal the patient (now an adult) has elevated cholesterol. The PCP can refer to the patient’s medical history-reflecting the genetic test-to check if they exhibit a mutation for familial hypercholesterolemia, which indicates a treatment different than other manifestations of the disease. This insight could prove critical as both PCP and patient strive to lower low-density lipoprotein levels.

In another example, say that a woman tests positive for the BRCA mutation, putting her at higher risk for breast and ovarian cancer. Several years later, she suffers from ovarian torsion. Typically, the treating physician would perform ovarian-sparing surgery, but information about her BRCA status-from genetic testing done years ago and available in her file-might prompt a different discussion between doctor and patient and may change the course of treatment significantly. Likewise, identification of a BRCA mutation could affect diagnosis and treatment of malignancies other than breast and ovarian, including endometrial and gastrointestinal cancer. Once again, access to germline results might critically influence clinical decision-making.

Finally, in the treatment of cardiovascular diseases, similar situations can occur. PCPs often manage patients diagnosed with congestive heart failure by simply monitoring weight, water retention, etc, but in some cases, the patient is more precisely diagnosed with dilated cardiomyopathy, which can be determined through germline testing, changing the course of management and treatment.

Delivering Insights to the Point of Care

Deriving value of this magnitude and duration, however, requires that results from germline testing be collected, stored, and made available across the health care enterprise. Clinicians in any given organization may already be ordering tests and leveraging the results. But, because there is no systematic or unifying infrastructure in place, data is collected in silos, often captured in PDFs or text files buried in a previous pathology report. For instance, one provider orders one panel of tests for one specific condition, then the results come back in isolation and are used to inform that single clinical decision. But much more value can be extracted if the health system implements a health informatics infrastructure, making genetic and genomic test data accessible to the entire clinical staff.

Few health systems have the workflows in place to integrate clinical information and genetic/genomic data in a meaningful way, nor present it in a usable manner at the point of care. They likewise are unable to oversee or add consistency to the ordering process: Which patients are being tested? Why? What labs are being used? 

Addressing the Unique Needs of Precision Medicine

Some health care leaders assume their electronic health records (EH Rs) have the capabilities to access this new category of data. However, these systems simply were not built with functionality to ingest genomic data discretely, nor to translate the specialized vocabulary used by molecular labs into common clinical language. In addition, to optimize utilization of genetic and genomic information beginning with PCPs and extending across an entire health system, EHRs would need to ingest data from, and subsequently make it available to, multiple software systems (lab and point-of-care) regardless of vendor. This is not currently possible given lack of standardization and interoperability gaps across various EHRs.

The opportunities presented by advances in genetic and genomic science require a new layer of technology, a platform that can sit on top of legacy clinical systems and ensure molecular data follows the patient from clinician to clinician and care setting to care setting over his or her lifetime. Of course, emerging solutions like this must also accomplish one additional objective: they must make allowances for the evolution of other data sets, specifically: phenotype (ie, patients’ conditions change over time. They present with new symptoms. They age. They develop new diseases and disorders.) and genomic science (ie, new findings are discovered every day, and progress will only accelerate).

IT solutions that promise to deliver value in this era of precision medicine must also be agile. They must be able to respond to new data that might represent an opportunity for providers to re-evaluate the therapeutic plan or to integrate new insights when the significance of a previously unknown variant emerges. They must provide point-of-care access to knowledge bases that represent the latest science and evidence-based practices to support clinical decision-making.

If PCPs and mainstream health care can embrace and effectively leverage the full value of genetic and genomic data, a giant leap could be made toward achieving the Quadruple Aim.

  • Quality of care and outcomes may improve with precise diagnoses and targeted therapies.
  • Costs may drop as trial-and-error medicine fades into the background.
  • Patients may be more satisfied (and loyal).
  • Physician burnout may decrease as clinicians feel better equipped to make precise clinical decisions.


There is little question that the availability of genomic information defines a new standard for patient care, with new genomic workflows rapidly becoming part of routine care in primary care, as well as maternal-fetal medicine, pediatrics, cardiology, and other specialties. The onus now lies with innovative health care leaders to adopt the strategies and solutions necessary to integrate precision medicine into daily clinical practice for the good of their patients.

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