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August 2006 Posts
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Minnesota Gene Pool Blog

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August 31, 2006

A titan in the field of genetics has crossed over

For those of you who knew Dr. Robert Gorlin, he passed away of complications of lymphoma on Tuesday morning, August 29, 2006. The following is from the School of Dentistry at the University of Minnesota.

Dr. Robert Gorlin:

Although Dr. Gorlin retired from his position at the dental school in 1993, he continued to lecture, write articles, edit text books, consult and, of course, to come to the dental school every day until only recently when his illness curtailed those visits. In addition to his faculty position at the dental school, Dr. Gorlin also held joint appointments in the University's Departments of Laboratory Medicine and Pathology, Obstetrics and Gynecology, Otolaryngology, Pediatrics, and Dermatology. Dr. Gorlin was an internationally acclaimed expert on oral and maxillofacial pathology, as well as genetic defects and syndromes, craniofacial disorders and hereditary hearing loss. A lifelong observer of life's rarer forms of disease, he studied physical malformations for clues they provide about normal development and for the answers to some of biology's most basic questions. Over the course of his 50 years at the University, he studied and named more than 100 syndromes caused by genetic defects, discovering six in the process that were named for him. For several of those 100 syndromes, he and colleagues have been able to isolate the gene that causes the condition. His pioneering work has enabled physicians to assess and treat many genetic birth defects and is helping molecular biologists find ways to prevent or lessen their effects.

Internationally applauded across a variety of disciplines, he was the recipient of numerous awards, including five honorary doctorate degrees from universities as far away as Athens, Dublin and Copenhagen. In 1997, he was named a Senior Fellow in the Institute of Medicine of the National Academy of Sciences which serves as an advisor to the country in the conduct of studies and other activities on matters of significance to health. That same year, he also received the prestigious Premio Phoenix Anni Verdi Award, presented by the Italian Medical Genetics Society in recognition of his basic and applied research in genetically transmitted diseases, as well as the Goldhaber Award from Harvard University. In 2002, he received the University of Minnesota's highest honor, an honorary Doctor of Science Award, and in 2003 he was recognized by the American Dental Association with its Norton A. Ross Award. In 2004 he was the recipient of the American Society of Human Genetics Award for Excellence in Human Genetics Education and was the invited presenter on the topic of genetic signaling in development and disease at the Nobel Foundation conference in Stockholm. Committed always to sharing his knowledge and inspiring others, he mentored and helped launch the careers of more than 20 postdoctoral fellows and attracted the nation's scientific leaders to the University of Minnesota for conferences, guest lectures, and faculty positions. In 1967, he played a pivotal role in creating the Lasby Visiting Professorship program, which continues to this day as a vehicle for bringing distinguished international or American health sciences scholars to the U-M School of Dentistry to complement current research and education programs. For the last 13 years, he has been honored by an annual Robert J. Gorlin Dysmorphology Conference which attracts scientists and clinicians from all over the world to discuss their research.

Dr. Gorlin earned his doctor of dental surgery degree from Washington University School of Dentistry in 1947 and his master's in Oral Pathology from the State University of Iowa in 1956. The same year, he joined the faculty at the U-M School of Dentistry as associate professor and chair of the Divisions of Oral Histology and Oral Pathology. He was named a U-M Regents Professor in 1978.

August 16, 2006

Sciona Lab Responds to GAO Report

Sciona Laboratory responded to the recent report by General Accounting Office that contained a negative assessment of nutrigenetic testing products through a press release dated July 27, 2006. In short, the company disputes the GAO's interpretation of the test results and offered to work with government entities to develop appropriate standards.

August 15, 2006

Genetics and Public Policy Center comments on DTC genetic testing

The Genetic Public Policy at Johns Hopkins University announced today that it has published an issues brief on direct to consumer testing. The text of Director Kathy Hudson's testimony before the Senate Special Committee on Aging is also available.

August 14, 2006

Senate Hearings on Direct to Consumer Genetic Testing

The Special Committee on Aging held hearings on direct-to-consumer genetic testing services on July 27, 2006. Testimony was heard from representatives from the Federal government, academia and the companies being investigated. The General Accounting Office (GAO) conducted an undercover investigation where samples of DNA from male and female test subjects were sent to four labs for nutrigenetic testing. The DNA samples were accompanied by varying profiles of age, physical activity, and diet information. According to the testimony of the Managing Director, Forensic Audits and Special Investigations (FSI), U.S. Government Accountability Office, the results of the undercover investigations report discrepancies in analysis of the DNA samples, health advice that is more consistent with reported lifestyle and diet than with the DNA test results, and the promise of personalized advice that actually was the same for all tested samples and profiles. The entire GAO report can be accessed here. The results of this investigation are not surprising, though disappointing. The promise of personalized diet and other lifestyle advice based on a combination of genetic, demographic and lifestyle information is the anticipated promise of nutrigenomics. However, we are not there yet, not even close. With the negative publicity that is likely to be generated by these results, I hope that we do not throw the baby out with the bathwater. This type of testing, although clearly prematurely and inappropriately being applied in these situations, needs to have the type of regulatory structure that allows oversight without stifling innovation. Ironically, these intrepid entrepreneurs who are pushing the envelope by providing this technology to the public may actually end up triggering a regulatory reaction that makes future innovation in this area more difficult than it would have had to be.

Senator Barack Obama has introduced legislation to regulate direct to consumer testing. It will be interesting to see how this legislation is shaped as it wends its way through the legislative process in the US Congress. The legislation was introduced as S.3822 on August 3, 2006. So far, there are no co-sponsors. We will continue to follow this and report any new developments regarding this legislation.

Family history and Breast Cancer

Check out the short article on family history and breast cancer in the July/August edition of the Sage Advice Newsletter. This piece succintly reviews the relevance of a family history of breast cancer and provides information for providers to confidently interpret a family history of breast cancer in their patients. The article is directed to the providers of cancer screening services who participate in the Minnesota Breast and Cervical Cancer Screening Program, otherwise known as the Sage Program. The Sage Program provides breast and cervical cancer screening services for women over age 40 who meet income guidelines and who are un- or under-insured. Women under forty years who have known risk factors (like a family history of cancer) may be eligible for screening through the Sage Program with a doctor's recommendation. This is a great program that has served almost 100,000 Minnesota women to date.

New Fact Sheets on Family History and Chronic Diseases

Check out the new fact sheets on family history and chronic diseases at the Minnesota Chronic Disease Genomics Project's website. The conditions covered include cardiovascular disease, hypertension, breast cancer, prostate cancer, colorectal cancer, diabetes and depression. These materials cover screening and prevention recommendations for people with and without a family history of these conditions and give advice on what you can do to prevent these conditions.

I have it on good authority that other fact sheets are currently in the pipeline and that these will address prevention and screening for people who are concerned about a family history of asthma, obesity and ovarian cancer. I'll announce them here when they are available.

If you check these out, please provide feedback or comments via this blog and I will see that the comments get back to the program. The goal is to make these useful and accessible for everybody. Your feedback will help to make it so.

Family history as a tool for prevention in primary care

The Oregon Chronic Disease Genomics Program has published a compact, information-filled article on using family health history for prevention of several chronic diseases in the July 11, 2006 edition of the CD Summary, an epidemiology publication of the Public Health Division, Oregon Department of Human Services. The good news is that knowing about your family history can give you and your healthcare provider the tools to keep you well. In most cases, a family history of something helps you either prevent or make a timely diagnosis of adult-onset diseases because you know to be watching for them. This contributes to better outcomes and health over the long term. Here are few fun facts from this piece: * If your first degree relative (a parent, a brother or sister or child) has type 2 diabetes, your chances are doubled to develop type 2 diabetes, as well.

* Among people who were older than 45 years of age, were overweight and had a family history of type 2 diabetes, less than one third were worried about their risk to develop type 2 diabetes themselves.

* If you have a first degree relative (parent, brother, sister or child) who had cardiovascular disease before age 50, if male, or age 60, if female, you should have your blood checked for signs that you are also at risk for CVD.

* If you have a family tree that suggests that CVD is running in the family (more than one affected relative, showing up in more than one generation, onset early in at least some relatives), this may suggest you have a very strongly hereditary condition that results in CVD in your family.

* If you belong to one of these families that is strongly predisposed to develop CVD, there are very good options for prevention and treatment to greatly reduce your risk.

* 25% of people diagnosed with colorectal cancer have a relative who also has /had the disease.

* Colorectal cancer can be detected early and has a very high cure rate if diagnosed early.

* Family history of breast cancer is relevant to your risk, whether it comes from your mother or father's side.

* If you have concerns about your family history of ANY condition, talk to your healthcare provider about this and discuss being referred to consult with a genetic counselor, a medical geneticist, or other healthcare professional who specializes in assessing familial risk for adult-onset diseases.

August 4, 2006

50 best science blogs

Nature has published their list of the 50 best science blogs written by scientists. Check it out.