NLA scientific statement navigates genetic testing for certain dyslipidemias
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Genetic testing can be useful for some patients with dyslipidemia, but many factors must be considered when selecting a test, according to a National Lipid Association scientific statement.
The statement first appeared in July 2020 in the Journal of Clinical Lipidology and was presented at the National Lipid Association Scientific Sessions by Lynne T. Braun, PhD, CNP, FAHA, FPCNA, FAANP, FNLA, FAAN, professor emerita of adult health and gerontologic nursing at Rush University College of Nursing, on behalf of P. Barton Duell, MD, FNLA, FAHA, professor of medicine at the Center for Preventive Cardiology and the division of endocrinology, diabetes and clinical nutrition at Oregon Health and Science University.
“Our goal was to create a user-friendly resource for genetic testing for hereditary dyslipidemias, and to answer commonly asked questions in addition to reviewing key aspects of the process and recommendations regarding clinical genetic testing for dyslipidemias,” Braun said during the presentation.
The statement outlines the various monogenic and polygenic dyslipidemias, notes their key clinical features and provides indications for genetic testing. Braun said such indications include strong clinical suspicion of a genetic dyslipidemia, strong family history of dyslipidemia and/or its complications, presence of related syndromic features, evidence that testing could improve management, existence of potential early interventions, eligibility for new or investigational drugs, patient preference and family planning.
The statement reviews which genetic tests are available and where they can be ordered, and notes that numerous polygenic risk scores exist but none are yet accepted as a gold standard, Braun said.
The document also discusses the need for informed consent if a genetic test is to be ordered, the risks of genetic testing and the role of a genetic counselor, Braun said.
The statement outlines what should be included in a credible test report, but notes that incidental findings are possible, and variants of uncertain significance may be identified.
Results may be inconclusive for some patients, Braun said.
When test results come back, they should be disclosed by a genetic counselor or a clinician who understands genetics. Genetic counseling services should be offered even if the test is negative, important findings unrelated to lipids should also be disclosed and the discussion should be tailored to the patient’s level of understanding and literacy, according to the statement.
“Genetic testing can provide important clinical information for patients and their relatives,” Braun said. “There are multiple factors to consider when selecting a genetic test. It’s important for patients to provide informed consent prior to testing.”
Reference:
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Duell PB, et al. Session II: Hot off the Press: NLA Scientific Statements. Presented at: National Lipid Association Scientific Sessions; Sept. 24-26, 2021; Orlando, Fla. (hybrid meeting).
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