Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Aileen Kenneson; Lauren Youngborg; Rani H Singh

doi:10.1016/j.ymgmr.2020.100633

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Mol Genet Metab Rep. 2020 Jul 31:24:100633. doi: 10.1016/j.ymgmr.2020.100633. eCollection 2020 Sep.

Authors

Aileen Kenneson¹, Lauren Youngborg¹, Rani H Singh^{1

2}

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
² Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

Abstract

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, even for those who had received genetic testing. Future studies should further examine knowledge of IMDs and genetic testing among families, and factors that impact clinicians' decisions to offer genetic testing for IMDs.

Keywords: Attitudes; Genetic counseling; Genetic testing; Inherited metabolic diseases; Knowledge.