Newborn Screening for SCID!

It’s not every day that I say “woo-hoo!!!” during the announcements at my department’s weekly grand rounds. This is especially true, because they occur at 8:30 on Monday mornings, and frankly, the coffee usually hasn’t kicked in enough for me to accomplish more than staying awake. In spite of my decaffeinated state, though, I did “woo hoo!!!” this past week, because I learned that a new condition was added to the recommended list of newborn screening disorders.

On January 21, 2010, the Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend that Severe Combined Immunodeficiency (SCID) be added to the uniform newborn screening panel. SCID meets all of the classic criteria for a newborn screening (NBS) condition. Namely, babies with the condition are healthy at birth and for a period of time afterwards, and there is a known, effective treatment (bone or stem cell transplantation). If the babies are detected before they have serious infections, their survival rate is much higher. The technique for screening for SCID involves detection of a marker for T-cell development, call TRECs. While SCID itself is relatively rare (1:65,000-1:200,000), it is clear from Wisconsin, where screening for SCID began almost two years ago, that other children with T-cell lymphopenia will also benefit from this addition to the panel.

I’m anxious to get started here in Georgia. For now, though, I hope everyone will join me in giving their own personal “woo-hoo!!!” for ACHDND’s decision, and for all of the babies and families who will be spared from unnecessary suffering during the years to come. Woo-hoo!!!

GWAS: advancing genomic research?

A recent New York Times article, featuring an interview with Duke geneticist David Goldstein, summarized Genome-Wide Association Scan (GWAS) studies as expensive and unable to identify disease-gene associations. While I agree that only a few SNP-disease associations have been identified to date, we should not forget about the exciting findings that have come out of this research. In the aggregate, about 90 cancer GWAS hits have been published in high impact journals as of early October 2009, including the 8q24, 11q13 and 17q24 regions for prostate cancer and the 8q24 and the 5p15.33 regions that have been identified in multiple cancers.

Given the complexity of diseases such as cancer, researchers are urged to view observed SNP associations as only a first step in understanding disease etiology. This is important because these SNPs may be genetic markers for other SNPs which may be driving host susceptability. Further, an individual's disease susceptability may be modified by exogenous factors, such as environmental exposures, occupational exposures, diet, infectious agenets, and other lifestyle exposures.

As we move into the age of full genome sequencing, researchers will be able to overcome the limitation of SNPs serving as genetic markers since data will be avaialble for the entire genome. This will not only allow researchers to identify the truly causual variant(s), but also to begin exploring SNP-SNP interactions, gene-gene interactions, pathway-based variation, and so on. Juxtiposing these data with exogenous exposure information will also allow researchers to start to understand the mechanisms of disease that may be highly dependent on environmental exposures, such as lung and bladder cancer. Until studies with whole genome sequencing are coupled with high quality exposure data, researchers should should view GWAS studies as the logical step, while expecting a range of genomic architectures underlying GWAS signals and that the model of a single gene resulting in a single outcome is less likely.

-Dean

Genetics on TV!

Dr. Phil is doing a small segment on Genetic testing and it's controversies as well as GINA. If you are interested check it out! It was on today (1.20.10) and aired for the last 10 minutes or so of the show.

ELSI Personal Genomics Seminar Series

I have been fortunate this year to be able to attend the ELSI Personal Genomics Seminar Series at the University of Michigan. This great series has had lectures on biobanking, gene patenting and research ethics for genome studies among others. Speakers have come in from around the country as well as Canada. It’s been great to get different perspectives on different ELSI issues. I’m really excited for an upcoming seminar featuring a point-counterpoint on direct-to-consumer marketing. If you want to check out the webcast of past episodes or find out the dates for upcoming seminars check out http://www.elsi.umich.edu/?q=events.

Nicole Exe (Genomics Forum Secretary)