Ethical considerations of population screening for late-onset genetic disease.

Abstract:

:Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which challenge the traditional model of clinical genetics care by the identification of late-onset disorders in an asymptomatic fetus, child, or adult. We present two unique examples of individuals referred to a biochemical genetics clinic due to the detection of late-onset Pompe disease by population-based screening modalities. We review early experiences in counseling and management of pre-symptomatic individuals and highlight some of the primary ethical factors warranting consideration as we enter the era of genomic medicine.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Golden-Grant K,Merritt JL 2nd,Scott CR

doi

10.1111/cge.12566

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

589-92

issue

6

eissn

0009-9163

issn

1399-0004

journal_volume

88

pub_type

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