Posts Tagged ‘Hereditary’

Personalized medicine

Saturday, July 25th, 2009

Interesting video on Charlie Rose Show:

A conversation about Personalized Medicine with Steven Pinker (Professor of Psychology, Harvard University), George Church (Prof of Genetics, Harvard Medical School) and Anne Wojcicki & Linda Avey of “23 and Me

Link to Video (30 minutes)

My own posts on genetics which resonate with some of the sentiments mentioned in this interview:

Genetics – A guide to understanding the literature

Does gene analysis provide risk profiling for heart attack?

Does gene analysis provide better risk profiling for heart attack?

Monday, March 30th, 2009

New England Journal of Medicine had published a paper in Aug 2, 2007 titled – “Genomewide association analysis of coronary artery disease.” In this article, the investigators analyzed the entire human genome in an effort to identify genes causing heart attacks and in the process try to predict the risk of heart attack in individuals.

Here is my take on it:

(I have analyzed the article according to a recent series of papers published in JAMA – for more details see here)

(I have removed a few slides from the presentation due to copyright issues)

In spite of having found a genetic association, the risk prediction provided by genetic profiling does not provide enough information to supplant current clinical risk factors (Framingham risk factors and the PROCAM risk score)

Bottom Line: The Home DNA kits that are being marketed provide very little information above and beyond clinical risk profile that physicians already use (atleast for now!)

Genetics – A guide to understanding the literature

Wednesday, March 4th, 2009

This presentation explains some of the basic concepts of genetics and provides a framework to analyze and understand medical literature pertaining to genetic studies.

(Disclaimer: I am not a geneticist and this is my attempt as a physician, to understand the role of genetics in patient care. If there are any inaccuracies, I will appreciate if you will leave a comment. Thanks)

Congenital Long QT Syndromes

Monday, March 2nd, 2009

A brief review of congenital long QT syndromes. I have limited this review to cover the main clinical concepts and have therefore left out the molecular physiology and genetics of these complex group of disorders.

Home DNA testing, is it worth it?

Saturday, September 13th, 2008

Not according to this article in Discover Magazine.

Alan E. Guttmacher, now acting director of the National Human Genome Research Institute at the National Institutes of Health, agrees with Khoury. “If you read the fine print carefully, these Web sites don’t usually make false claims, but I think a lot of people will have false hopes. The information is incomplete at best and, in some cases, very likely wrong,” Guttmacher says. “The results look scientific,” he adds, but don’t be fooled.

Bottom line: If there is no indication, don’t waste money.

DNA_orbit_animated.gif

(Image source: Wikipedia)

And of course, there are certain conditions in which DNA testing may be worth it, especially when there are multiple family members in multiple generations afflicted by a certain disorder (e.g. BRCA1 & BRCA2 gene testing in families having multiple occurrences of breast & ovarian cancer).

When genetic testing is being contemplated, the index case (i.e. the person suffering from the disorder) should be tested first to see if he is carrying a defective gene. If the index case is positive then other family members should be tested after undergoing genetic counseling.