September 25, 2021
2 minutes to read
Source / Disclosures
Published by:
Duell PB, et al. Session II: Fresh from the Press: Scientific Statements from the NLA. Presented at: National Lipid Association Scientific Sessions; Sep 24-26, 2021; Orlando, Florida (hybrid reunion).
Disclosures: Braun reports receiving royalties and fees from UptoDate. Duell reports consulting and / or receiving institutional research grants from Akcea, Amryt, Kaneka, Regeneron, Regenexbio and Retrophin / Travere.
Genetic testing can be helpful for some patients with dyslipidemia, but there are many factors to consider when selecting a test, according to a scientific statement from the National Lipid Association.
Lynne T. Braun
The statement first appeared in July 2020 in the Journal of Clinical Lipidology and was presented at the Scientific Sessions of the National Lipid Association by Lynne T. Braun, PhD, CNP, FAHA, FPCNA, FAANP, FNLA, FAAN, Professor Emeritus of Adult Health Nursing and Gerontology at Rush University College of Nursing, on behalf of P. Barton Duell, MD, FNLA, FAHA, Professor of Medicine in 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 answer frequently asked questions in addition to reviewing key aspects of the process and recommendations regarding clinical genetic testing for dyslipidemias,” said Braun during the presentation.
The statement describes the various monogenic and polygenic dyslipidemias, notes their main clinical features and provides indications for genetic testing. Braun said these indications include a strong clinical suspicion of genetic dyslipidemia, a strong family history of dyslipidemia and / or its complications, the presence of associated syndromic features, evidence that testing may improve management, existence early intervention potential, eligibility for new or investigational drugs, patient preferences, and family planning.
The statement examines what genetic tests are available and where they can be ordered, and notes that there are many polygenic risk scores 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 describes what should be included in a credible test report, but notes that fortuitous findings are possible and that variants of uncertain importance can be identified.
The results may not be conclusive for some patients, Braun said.
When test results come back, they should be released by a genetic counselor or clinician who understands genetics. Genetic counseling services should be offered even if the test is negative, important results unrelated to lipids should also be disclosed and the discussion should be tailored to the patient’s level of understanding and literacy, the statement said.
“Genetic testing can provide important clinical information for patients and their families,” Braun said. “There are several factors to consider when selecting a genetic test. It is important that patients give informed consent before testing.
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