The 21 genetic conditions that should be reported by patients if found incidentally during whole-genome sequencing

Illustration: DNA associates with histone proteins to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to physicians as incidental findings from whole-genome sequencing. A recent study showed that genetic specialists agreed that pathogenic mutations for 21 common genetic conditions should be disclosed by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial hypercholesterolemia
Gaucher disease
Glycogen storage disease type IA
Hereditary breast and ovarian cancer
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Pompe disease
PTEN hamartoma tumor syndrome
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson disease

For pediatric patients (child)

PTEN hamartoma tumor syndrome
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease

Collecting family history predicts cancer risk better than 23andMe genetic testing, according to a recent study from the Cleveland Clinic:


Exploring concordance and discordance for return of incidental findings from clinical sequencing. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.

Genome sequencing to add new twist to doctor-patient talks. American Medical Association, 2012.

How to talk to patients about genetic testing

1 comment:

  1. Thank you for the information. I would be glad o compromise on this since our family's gene is on the cancer line.. Almost everyone who died ahead of my mother's mother and father's mother are of cancer.