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Health Communication Needs and Preferences of Clinicians Returning Hypercholesterolemia Results

Health Services and Implementation
  • Primary Categories:
    • Health services and Implementation
  • Secondary Categories:
    • Health services and Implementation
Introduction:
Familial Hypercholesterolemia (FH) is a genetic condition characterized by extreme elevations in low density lipoprotein cholesterol (LDL-C) levels. FH is inherited in an autosomal dominant fashion and is estimated to affect at least 1 in 250 people. The high frequency of FH and the serious health risks it predisposes individuals to, such as catastrophic cardiovascular events, make timely diagnosis and proper management crucial. Similar elevations in LDL-C levels that also carry associated health risks can be caused by other genetic conditions, such as a polygenic risk for hypercholesterolemia, an elevated Lipoprotein(a) [Lp(a)] level, or through non-genetic causes. Genetic testing for monogenic FH has expanded in recent years, leading to non-genetic providers, such as primary care providers and cardiologists, coordinating such testing and managing the results. Recent progress has been made in understanding polygenic hypercholesterolemia as well as Lp(a) and its association with LDL-C, but there remain gaps in how to communicate these results to providers and patients.

Methods:
Our team conducted interviews with primary care providers (PCPs), genetic counselors (GCs), and cardiologists across two health systems to assess how they would communicate when returning different types of hypercholesterolemia results to patients in hypothetical situations and to identify areas where they would need further guidance or resources to provide care and management. The vignettes presented to clinicians included a positive result for monogenic FH, a high polygenic risk for hypercholesterolemia, high Lp(a), and high cholesterol without an identified genetic cause. Two independent primary coders and one secondary coder completed deductive line-by-line qualitative coding of the interview transcripts using an a priori health communication codebook that the study team developed. Thematic analysis was then applied to define the communication preferences and needs of clinicians returning hypercholesterolemia results to patients. 

Results:
Interviews were completed with 25 clinicians, including 10 PCPs, 8 GCs, and 7 cardiologists. The distribution of provider types across each health system was similar, and the themes identified were consistent across both health systems and provider types. Clinicians returning hypercholesterolemia results wanted concise, key information regarding a patient’s results in one place (e.g., the electronic medical record), including a summary of the result, treatment and management recommendations, and information about next steps, including appropriate referrals. Many valued taking a team approach to the patient’s care and described a desire for an automatic referral to a specialist who can further help guide the patient’s treatment. They also said they valued having guidance on how to discuss the specific result with the patient and having resources on hand for the patient, specifically to illustrate the risks related to the patient’s results (e.g. “...for risk factors, I really love the tools that are designed specifically for patient shared decision making…some of [which] provide pictures;” “…this number of people out of 100 has a heart attack…you have the FH…gene;. “…this percentage of people out of 100….”). Overall, clinicians expressed that more resources are needed for returning Lp(a) and polygenic risk results. Compared to monogenic FH and high cholesterol without a genetic cause identified, providers were less familiar with interpretation and management of Lp(a) and polygenic hypercholesterolemia results.

 

Conclusion:
As new genomic technologies emerge and more provider types engage in returning genetic results to patients, it is important to provide clinicians results in a manner that is supportive of patient care. By ensuring that results are clear to providers, and that they have the resources to effectively convey the implications of a result to a patient, care for those patients will be better managed and the risks that a condition like FH poses can be greatly reduced.

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