Most physicians feel unprepared to provide genetic services

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Advancements in genetic research have the potential to revolutionize patient health outcomes, particularly in primary care settings. However, a recent study from Taif University in Al Hawiyah, Ta’if, Saudi Arabia, highlights significant gaps in knowledge and preparedness among primary care physicians.

In Saudi Arabia and the United States alike, primary care serves as the first point of contact for patients and their families within the health care system, providing accessible and affordable care for common and chronic illnesses, minor injuries and preventive services. The report notes that, due to the high rate of consanguinity in Saudia Arabia, the country faces a burden of autosomal recessive genetic disorders. The country’s “Vision 2030” initiative emphasizes preventive care and the integration of innovative health services into primary care—including clinical genetics.

The study, published in Cureus, aimed to assess the preparedness of primary care physicians to incorporate genetic services into their practices, while simultaneously identifying barriers to effective integration and evaluating the willingness of physicians to pursue further training in genetics.

Researchers surveyed 31 primary care physicians across four Saudi Arabian cities between May 2024 and September 2024 using a 22-question, self-structured questionnaire.

Survey says

The study revealed critical gaps in education, knowledge and overall preparedness for the integration of genetic services:

• Limited genetics training: Eighty-four percent of study participants reported no formal training in clinical genetics, and 90% described their knowledge of genetics as slight or nonexistent. Just 14% felt their knowledge was adequate to properly identify signs of a genetic syndrome, while 52% believed they could confidently refer patients to specialists.
• Lacking confidence: The vast majority (74%) of physicians indicated they lacked confidence in ordering genetic tests, and 43% were not confident in interpreting test results. Similarly, 43% indicated that they lacked confidence in explaining the results of genetic tests to patients.
• Lack of first-hand experience: Most physicians (84%) said that they rarely or never encounter medical genetic conditions in their practice and 61% had never referred a patient to a genetic specialist.

Despite these limitations, participants recognized the impact that genetic services could have on patients. All respondents believed that incorporating genetics into primary care would contribute to improved patient outcomes, and 77% of physicians expressed interest in expanding their knowledge and skills in clinical genetics.

“The primary health care physicians believed that they were not yet ready to integrate genetic services into their practice due to their lack of formal education and training,” the authors of the study wrote. “This skills gap can result in patients with a genetic disorder or at risk of developing one being misdiagnosed, which may lead to complications.”

Barriers to integration

The study also looked to identify barriers to the incorporation of genetic services into primary care practices:

1. Limited knowledge and training: A lack of formal education and training in clinical genetics was the most cited barrier, with 90% of study participants identifying it as a significant challenge.
2. Time constraints: Seventy-one percent of respondents indicated that the additional time required to address genetic concerns during patient consultations would be a barrier to implementation.
3. Resource limitations: Seventy-seven percent of participants reported concerns about resource availability for clinical genetic services, and 71% were currently unaware of resources available to them for genetic services.
4. Rarity of cases: Nearly half (48%) of participants believed the rarity of genetic cases reduced the feasibility of integrating these services into their practices.

“With the rapid advances in clinical genetics, there is significant potential to transform patient care from traditional approaches to personalized or precision medicine by integrating genetic services into primary care at the earliest stages,” the authors wrote. “…Such integration would require prioritizing education and training in genetics for health care professionals working in primary care settings. A targeted, continuous educational program, in which the [general practitioners] in this study expressed interest, could address the current knowledge gap.”