Physician-directed genetic screening to evaluate personal risk for medically actionable disorders

1. 15.5% of individuals undergoing primary genetic risk screening testing positive for a genetic variant associated with a preventable monogenic disorder.

2. 49.8% of individuals who tested positive had a variant associated with hereditary cancer.

Evidence Rating Level: 2 (Good)

Typically, genetic risk screening for healthy individuals is used mainly in preconception and pregnancy. One exception is that the American College of Medical Genetics and Genomics (ACMG) identified 59 genes, associated with monogenic disorders, that should also be screened when genome sequencing is indicated for other purposes. The Centres for Disease Control and Prevention (CDC) also acknowledge that genetic screening for hereditary ovarian and breast cancers, hypercholesterolemia, and Lynch syndrome would be of societal benefit. Therefore, this cohort study aimed to identify the prevalence of clinically significant gene variants associated with preventable disease, to determine the feasibility and benefit of primary genetic screening. In total, 147 genes were included in the screening, taken from sources such as the ACMG, ClinGen Working Group, and other clinical centres. The study population consisted of 10,478 unrelated adults who were offered genetic screening by their healthcare providers. The average age was 49.5, 59.0% were female, and 59.9% were Caucasian. 15.5% of patients had clinically significant results, and 1.3% exhibited multiple genetic variants for more than one condition. 6.2% showed a positive genotype for a high impact condition, such as hereditary cancer or a cardiovascular condition, whereas 9.3% were positive for a moderate impact condition, such as alpha-1 antitrypsin deficiency or hereditary hemochromatosis. Among the 15.5% who tested positive for any variant, 49.8% showed variants for hereditary cancer. Overall, this study found that nearly 1 in 6 individuals may have genetic variants that can pre-dispose them to preventable conditions, especially hereditary cancer.

Click to read the study in BMC Medicine

Image: PD

@2021 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.