The increasing challenge of genetic counseling for cystic fibrosis

Foil, Kimberly E, Powers, Amy, Raraigh, Karen S, Wallis, Kimberly, Southern, Kevin W ORCID: 0000-0001-6516-9083 and Salinas, Danieli (2019) The increasing challenge of genetic counseling for cystic fibrosis. JOURNAL OF CYSTIC FIBROSIS, 18 (2). pp. 167-174.

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Abstract

Genetic counseling for cystic fibrosis (CF) is challenged by intricate molecular mechanisms, complex phenotypes, and psychosocial needs. CFTR variant interpretation has become critical; this manuscript examines variant nomenclature and classes, as well as opportunities and challenges posed by genetic technologies and genotype-directed therapies. With post-graduate training in medical genetics and counseling, genetic counselors educate patients and families, facilitate testing and interpretation, and help integrate genetic information into diagnosis and treatment. They support families, ranging from carrier couples or new parents, to children understanding their disease, to adults with CF contemplating reproduction. The changing face of CF increasingly highlights the critical importance of genetic information to patients and their families. Genetic counselors are uniquely poised to translate this information in diagnostics and personalized care. Genetic counselors straddle molecular and clinical realms, helping patients adapt, plan, and gain access to appropriate therapies.

Item Type:	Article
Uncontrolled Keywords:	Cystic fibrosis, Genetic counseling, CFTR testing, Newborn screening, Variant classification, Personalized medicine
Depositing User:	Symplectic Admin
Date Deposited:	22 Feb 2019 09:09
Last Modified:	19 Jan 2023 01:02
DOI:	10.1016/j.jcf.2018.11.014
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3033227