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
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
Pompe disease
PTEN hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson disease

For pediatric patients (child)

PTEN hamartoma tumor syndrome
Retinoblastoma
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:



References

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  http://goo.gl/kkW4m

Back and forth: Study fails to show link previously found between virus and chronic fatigue syndrome

A UK study analysing samples from patients with chronic fatigue syndrome has found no evidence of a link with a retrovirus (XMRV). The virus was first described in 2006.

Patients with chronic fatigue syndrome, also known as myalgic encephalomyelitis, often report that their condition—a mix of symptoms including extreme fatigue—began after an otherwise normal viral infection.

The xenotropic murine leukaemia virus-related virus (XMRV) was found in 67% of patients with chronic fatigue syndrome in a study reported last year (Science 2009,326:585-9).


The Gift of Time is a short film about the doctors who discovered the XMRV virus and the breakthru potential for prostate cancer.

References:

Study fails to show link previously found between virus and chronic fatigue syndrome. BMJ 2010;340:c1033.

How much heat you can take? 232 years ago, three British gentlemen found out

Have you ever wondered how much heat you can take? 232 years ago, three British gentlemen decided to find out: 260 degrees Fahrenheit (126.6 degrees Celsius).

From NPR:



Be sure to check the cartoon slideshow too.