Genetic Testing & Primary Care: Are They a Fit?

genetic testing

Genetic testing as part of the primary care visit? It won’t replace routine testing for fecal occult blood or cholesterol, but it is happening. For example, in suburban Chicago, Endeavor Health offers all patients genetic testing as part of their primary care visit.¹ Over the past four years, more than 40,000 have received genetic testing, and more than 90% of primary care doctors across the Medical Group have ordered such testing for their patients.

And in 2022, the National Health Service England announced its “ambition over the next five years to accelerate embedding the use of genomic medicine across the NHS, providing a world-leading, equitable service to populations and individuals.”²

But as intriguing as the prospect of routine genetic screening is, challenges will need to be addressed, not the least of which is, how much money are people and payers willing to spend on such tests, not to mention follow-up diagnostics and care?

What Can Genetic Testing Offer?

Executives from the Danville, Pennsylvania-based health system Geisinger made the case for genetic screening in a 2018 Harvard Business Review article.³ Standard screening tests such as colonoscopy, mammography, and cholesterol measurement are appropriate for individuals at average risk for cancer and heart disease but inadequate for those whose genetic profiles put them at much higher risk, they said. For those individuals, genetic testing is needed to accurately forecast their risk and anticipate their health needs.

More than 340,000 people have already signed up for Geisinger’s MyCode DNA sequencing program.⁴ The health system’s goal is to give every Geisinger patient the opportunity to participate.

Genetic Testing and Primary Care

Because primary care medicine combines the treatment of acute illness with disease prevention and anticipatory guidance, many believe the primary care provider is ideally suited to evaluate and treat patients for genetic disease.⁵ The notion that genetic knowledge is only rarely needed may have to be replaced with a comprehensive approach that integrates “genetic thinking” into every patient encounter.

According to the NHS England Genomics Education Programme⁶, primary care providers can learn how to “think genomics” and spot red flags by:

Identifying and understanding their patients’ risk of inherited genetic conditions and cancers when taking the family history.
Recognizing early signs of rare disease in children, such as developmental delay, and help children and their parents avoid – or at least shorten – what some call the “diagnostic odyssey.”
Considering genomics when patients have a surprising test result, such as unusually high cholesterol with no other explanation.
Knowing when and how to refer patients for specialist advice.

In addition, primary care providers may be best suited to manage the emotional consequences of the genomic test result and provide guidance and reassurance as necessary, particularly if payers fail to cover recommended treatment.

The Cost

Though genetic testing has become more convenient and accessible, costs can range from under $100 to over $2,000 for those without insurance.⁷ Several elements influence these costs, including the type of test, the complexity of analysis and laboratory processing fees. Many insurance plans provide coverage for genetic carrier screening, but specific benefits must be checked for each patient.⁸

Obstacles such as these were the topic of a 2021 case study in the Journal of Primary Care and Community Health.⁹ Mayo Clinic and Mountain Park Health Center (MPHC), a Federally Qualified Health Center in Phoenix, Arizona, established a partnership to provide primary care and behavioral health services to financially disadvantaged patients. The partners invited 1,621 self-identified Latino patients at MPHC to undergo genomic screening. Five hundred agreed to have their biobank sample analyzed, receive genomic screening results and have those results placed in their EHR.

After test results were received, providers encountered difficulties not only contacting patients but also convincing them to come to the clinic to discuss pathogenic variants and follow-up care. They reported similar challenges contacting at-risk family members and encouraging them to come in to discuss genetic testing options.

Several providers voiced concerns about their patients’ ability to pursue recommended follow-up care due to financial constraints. Since many patients who receive care at MPHC are underinsured, providers worried that patients with pathogenic variants would lack sufficient insurance to cover the costs of follow-up care. As a result, those patients might be left with a difficult decision to either pay out-of-pocket expenses or forego recommended diagnostic evaluations or procedures.

The concern about patients’ inability to act on medical recommendations based on genomic results prompted several primary care physicians to question whether genomic screening should be offered to individuals who do not have the financial capacity to pursue follow-up care.

Several providers voiced concerns about their patients’ ability to pursue recommended follow-up care due to financial constraints.

Expanding Access

Despite obstacles such as these, in 2022 the World Health Organization’s Science Council of experts issued its first report on accelerating access to genomics for global health.¹⁰ The report argues that it is not justifiable ethically or scientifically for less-resourced countries to gain access to such technologies long after rich countries. The report calls for expanding access to genomic technologies, particularly in low- and middle-income countries, by addressing shortfalls in financing, laboratory infrastructure, materials and highly trained personnel.

In recent years, genomics and genetic data have emerged as an innovative area of research that could potentially transform healthcare. This information could accelerate precision medicine, paving the way for individualized therapies tailored to each person.¹¹ However, this new source of information could also come with unprecedented challenges, and primary care clinicians will be among those who will have to grapple with them.

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