iPathology

National Registry of Genetic Tests

DARK Daily Laboratory and Pathology News.

The above article is about the NIH's plan to establish a national and even international registry of laboratories that perform genetic tests and some details of those tests. There is a need for a centralized database that offers more than just the name of the test, i.e., what mutations are detected, what is the sensitivity of assays where applicable, what are the turnaround times, who certifies/accredits the labs, what are the qualifications of the lab directors, what interpretation of lab results is available, and what does a test cost? In light of the increasing expenditure on genetic testing, the last item would be of particular interest to many people.

Preparing for a Consumer-Driven Genomic Age

Preparing for a Consumer-Driven Genomic Age.

The above article is published in this week's New England Journal of Medicine. It's a very good overview of the issues that we face in exploiting the power of genomics without exploiting the consumer by offering unvalidated and essentially meaningless test results. In addition to the issues raised in the article, it's worth noting that the CLIA regulations still do not have a separate specialty called Genetics that covers the very unique technical challenges of performing testing on nucleic acids using technologies that didn't exist when the regulations came into effect nearly 20 years ago.

P4 Medicine: Predictive Preventive Personalized and Participatory

One of the best talks at the recent AACC Annual Meeting was given by Leroy Hood from the Institute for Systems Biology. His topic was P4 Medicine, a term he coined for "predictive, preventive, personalized, and participatory".

What he's describing will, I believe, have significant and exciting implications for Laboratory Medicine because the concepts are based on the idea of clinical laboratory genomic analysis for identification of disease risk alleles, blood analysis for early detection of disease by measurement of disease specific biomarkers, and interpretation of data by knowledgeable experts.

With the prospect of a $1000 genome sequence in the not-too-distant future, and rapid advances in protein analysis by mass spectrometry, it seems realistic to think that many of the technical limitations are surmountable. The question in my mind is how does one deal with the enormous amount of data from these analyses and distill it into something intelligible to physicians and patients alike?  And will patients really take an interest in modifying their lifestyle in response to new risk factors when it's so difficult for many people to adjust to well known disease risk factors today, such as smoking, diet, lack of exercise, and so on?

But back to Laboratory Medicine. What is being described as P4 Medicine is obviously very reliant on clinical laboratory analysis, and could bring about a new era for advanced Lab Medicine in specialized centers that can offer such testing.

A link to the ISB page is provided. I've highlighted (annotated) on Diigo some points I found interesting or controversial.

• Institute for Systems Biology: Predictive Preventive Personalized and Participatory - Annotated

2011 AACC Annual Meeting: Proposals Being Accepted Now

I am the chair of the 2011 American Association for Clinical Chemistry (AACC) Annual Meeting Organizing Committee. The meeting will be held in Atlanta, GA, July 24-28 2011, the venue where I first attended an AACC annual meeting over 20 years ago.

The call for proposals has gone out. Proposals are due no later than 5 p.m. EST Sept. 28th 2010. The website and instructions for proposals are at www.aacc.org/AM2011 .

Cystatin C reference material produced

At the recent AACC annual meeting in Anaheim, Dr. Anders Grubb from Lund University described the newly available cystatin C standard reference material produced in conjunction with the IFCC. The material is available for calibration of cystatin C assays (link) .

Given the wide interest in biomarkers of kidney disease, this material should be of interest to IVD manufacturers and to laboratorians who are interested in offering cystatin C testing. Cystatin C has been proposed as a good alternative to creatinine (normally used for estimated GFR calculations) for detection of renal disease, but the lack of a reference material for calibration has been problematic up to now, and relatively few commercial cystatin C assays are available at present.