21 genetic Conditions that must be reported by patients if incidentally found throughout the genome sequencing

Illustration: DNA associated histones to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to the doctors as incidental findings from the whole genome sequencing. A recent study has shown that genetic specialists agreed that disease-causing mutations to genetic conditions 21 should be reported by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial Hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary Breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Disease of pompe
PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson's disease

For pediatric patients (child)

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

Family history collection predicts cancer risk better than 23andMe genetic testing, according to a recent study by the Cleveland Clinic:

References

Concordance and discordance exploration for return of accidental discoveries to clinical sequencing. Green RC, JS, Berry, Biesecker LG GT Dimmock DP, Evans, JP, WW, MR. Grody, Kalia S Hegde, BR, Korf Krantz I, AL McGuire, Miller, DT, Murray MF, Nussbaum RL, Plon IF Rehm HL, Jacob HJ. Genet med. Apr 2012; 4: 405-10. DOI: 10.1038/2012.21. gim. Epub 15 Mar 2012.

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

How to talk to patients http://goo.gl/kkW4m genetic testing