GENOMICS IMPACT NEWSLETTER

 Volume 3: Number 2 February 2003

 

Welcome to GENOMICS IMPACT, the monthly electronic newsletter produced by the Association of State and Territorial Health Officials’ Genetics Project. The material contained in this newsletter is for informational purposes and does not necessarily reflect the views of ASTHO. The Internet addresses (URLs) and their contents listed in this newsletter are correct at the time of publication. However, readers should bear in mind that Internet addresses and their contents can change without notice. In addition, some articles may require a free or paid registration. To receive this newsletter by email, or to unsubscribe, please send a request to apowar@astho.org

 

Links to Newsletter Features

 

 

New State Profile

Genomics in New York State

 

Policy

 

Chronic Diseases

 

Gene Discovery

 

Maternal and Child Health

 

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What’s New

§         Britain Plans Genetic Census

 

Funding

 

Events

§         Click here or scroll down for events calendar

 

 

State Profile

Genomics has been a part of the New York State Department of Health since the advent of newborn screening in 1965. While genomics can be found across all Divisions of the Department of Health, the Wadsworth Center, New York’s public health laboratory, has been the unofficial “home” of genetics and genetic services since the 1970’s.  With a staff of approximate 1100 that includes 160 doctoral level students and federal funding of approximately $24 million, Wadsworth remains one of the most comprehensive and unique state health laboratories in the nation. The Center is the first and only U.S. public health laboratory to license the practice of genetic testing, as early as 1972 for cytogenetics, and biochemistry and DNA testing in 1990. The Wadsworth Center also conducts a number of programs designed to provide research opportunities to high school students and K-12 teachers in the biomedical and environmental sciences. Commitment to research and education enable the Center to fulfill the mission of protecting and promoting the health of individuals. 

 

Genomics has a rich history within the Center. In 1967 the Birth Defects Institute (BDI) was created by the state legislature as a quasi-independent institute. The primary function of the Institute was to determine the causes of birth defects and genetic diseases. In 1978, the BDI was brought under the auspices of the public health laboratory and integrated with the Newborn Screening Program. The BDI was renamed the Laboratory of Human Genetics in 1984 and in the last ten years has been known as the Division of Genetic Disorders. Newborn screening is the largest program in the Division. The Newborn Screening Program screens approximately 260,000 newborns for a total of 2.5 million tests annually. Newborns are screened for a total of 11 disorders; tandem mass spectrometry is used to screen for MCAD and aminoacidopathies. The program also provides follow-up intervention and medical treatment referrals for affected families.  The program is advised by the Newborn Screening Committee, a group of external advisors. In addition to newborn screening, the Division also includes the Genomics Institute, laboratory services, educational activities and management of contracts that fund genetic services.

 

Senior leadership, including Commissioner Antonia C. Novello, M.D., M.P.H., Dr.P.H., Wadsworth Director Lawrence S. Sturman, M.D., Ph.D., and staff of other Divisions within the Department of Health, have been very receptive to genomics activities. The Department’s organizational structure places Dr. Kenneth Pass, who is both the Director of the Laboratory of Newborn Screening and Genetic Services and the Deputy Director of the Division of Genetic Disorders, parallel to other Division chiefs, such as the Director of the Division of Chronic Disease Prevention and Adult Health. Dr. Pass also functions as the state genetics coordinator.

 

There is active interaction and communication regarding genetics between the various Divisions through meetings, discussions and open dialogues; however, each program sets its own priorities regarding genomics. There is an increasing incorporation of genetics in many Department programs, including family health, children with special health care needs, and the cancer registry. For example, the Division of Environmental Disease Prevention is increasingly integrating genetics into many of their programs. They are utilizing molecular epidemiology and tracking biomarkers to help assess gene-environment interaction in the causation of specific diseases, which includes conducting studies on occupational exposures in workers at the World Trade Center clean-up site.

 

Similarly, the Bureau of Chronic Disease Services in the Division of Chronic Disease and Adult Health is actively integrating genetics into their programs. The Director of the Genetics Education and Information Program, Ms. Karen Greendale, is the first certified genetic counselor to be hired by a Chronic Disease Program in the country. She is involved in increasing awareness of the role of genetics in many chronic diseases, including cancer. A few of the projects she is currently involved in are a national adult, common, chronic disease and genetics email listserv, and a New York State cancer genetics listserv. On a national level, Ms. Greendale was involved in the planning of two genomics retreats for chronic disease directors and in a project to develop genomics competencies for public health providers. In addition, she directs the New York State Ovarian Cancer Program and works with the New York State Comprehensive Cancer Control Planning Project. In a previous role in the Wadsworth Center, Ms. Greendale worked to develop and disseminate a clinical guideline on “Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling, and Testing Guidelines,” a joint project of the Department of Health and the American College of Medical Genetics.

 

Genomics components of programs are funded through a variety of mechanisms. External genetic services are funded mainly through the Maternal and Child Health Block (MCHB) grant and State appropriations. The Newborn Screening Program and Committee are funded by State appropriations and some MCHB block grant funds, while quality assurance and oversight of laboratory testing is funded from user fees. The Department has received some Health Resources and Services Administration funds through special projects in newborn screening and the GENES Network grant, which enhanced networking and communication between genetics professionals in New York State, Puerto Rico, and the Virgin Islands, and led to the development of an extensive database of “genetics contacts.”  The Center for Health Workforce Studies at the School of Public Health has been funded by HRSA to survey all clinical geneticists in the U.S. Next year, they will be surveying members of selected primary care provider groups on their use of genetic testing. This is one part of a national study on “Assessing Genetics Services in the Health Workforce.” The study is designed to improve the understanding of genetics services, the factors affecting the demand for such services, and the various roles of professionals providing these services. Other sources of funds include research money, such as that Ms. Greendale has from the Department of Energy (through a subcontract with the National Coalition for Health Professional Education in Genetics) to create a CD-ROM to acquaint primary care providers and public health workers with the basic principles of genetics and a conceptual framework for considering genetic contributions to common disease. In addition, the Center was recently approved as a “Center of Excellence for Schools of Public Health,” however they have not yet been awarded funds.

 

While the state’s genetics committee, which was formed during the creation of the GENES Network, has been disbanded due to lack of funding for that project, members continue to interact informally, and the state has various external task forces such as the New York State Genetics Task Force, which is a non-profit organization that was formed in 1979; and the more recently formed Upstate Genetics Group. Both task forces provide education in the fields of genetics, molecular biology and birth defects and encourage private and public support in the fields of birth defects and genetics. In addition, the New York State Task Force on Life and Law, which was established in 1985, has contributed to many policies on issues arising from advances in medicine and genetics and published the report, “Genetic Testing and Screening in the Age of Genomic Medicine.” Recommendations from the Task Force’s report have been used in legislation in New York and other States.

 

Genetics has clearly permeated many areas of the health department during the past few decades. With the interest of senior leadership, the laboratory expertise of the Wadsworth Center, and a number of dedicated staff members, the integration of genetics will continue within the department of health, especially as genetics becomes integral to the practice of public health in the post-Human Genome Project era.

 

 

Policy

New State Legislation Highlight: To keep our readers informed of what is happening in the states, we have added a new feature to the Genomics Impact-a summary of genetics-related legislation that has either been introduced or passed in state legislatures during the previous month. In each issue, working in partnership with the National Conference of State Legislatures (NCSL), we will present a summary of bills introduced in the previous month. For more information, please visit the Genetic Laws and Legislative Activity page of NCSL's Genetic Technologies Project at http://www.ncsl.org/programs/health/genetics/charts.htm.

 

In the month of January, states introduced bills on a number of genetics issues: 

§         Embryonic and fetal research: Kentucky and Virginia.

§         Genetic counselors: New York.

§         Genetics and health insurance: Florida, New York and Virginia.

§         Life, disability and long term care insurance: New York introduced three separate bills.

§         Human cloning: Kentucky, Indiana and New York.

§         Newborn screening: New York, Nebraska and Colorado.

§         Privacy of genetic information: Colorado and New York.

§         Genetics and employment: Kentucky, New York, Washington and District of Columbia.

§         Reproductive genetics: Colorado.

§         Genetics Task Force, Advisory Group or Committee: New York introduced three separate bills.

§         Laboratory and testing standards: New York.

 

Utah Supreme Court Upholds Law Preventing Lawsuits Against Doctors: In a 3-2 decision, the Supreme Court of Utah upheld the state’s Wrongful Life Act that prevents parents from filing lawsuits against medical professionals who err or misinterpret prenatal genetic screenings. The ruling supported the earlier decision made by a Third District Judge in 1999, regarding a case that asserted a physician inaccurately interpreted results from a screening test for Down’s Syndrome, thus preventing the parents from making an informed reproductive decision. The child was born with Down’s Syndrome. In its opinion, the court held that restriction on suing for damages did not pose a barrier for a woman seeking abortion; although, the Wrongful Life Act statute creates a safety net for health care professionals who withhold information that could be used by parents to make reproductive decisions. Dissenting justices stated that the court used the wrong standards and that this case was no different from other malpractice cases. Source: www.kaisernetwork.org. Daily Reproductive Health Report, Friday, January 3, 2002.

 

South Carolina To Test Newborns for 33 Genetic Conditions: The State Board of Health and Environmental Control in South Carolina approved the addition of 27 tests to the state newborn screening panel. Presently, the state screens infants for 6 genetic conditions; with the addition of the new conditions, they will screen infants for a total of 33 genetic conditions. However, it will take almost a year before testing for the additional conditions is fully implemented. The board also approved a new consent form, which will need approval from the state legislature before becoming final, that would explicitly explain the state’s policy on storing infant blood samples. The same form also will allow parents to opt out of having the sample stored. Source: http://greenvilleonline.com/news/opinion/2003/01/16/2003011634558.htm

 

 

Chronic Disease

Icelandic Firm Finds Gene Signals For Brittle Bones: Based on a discovery by deCODE Genetics, a genetic test to determine predisposition to osteoporosis may be brought to market in a couple of years. By studying the genes of 1000 patients and infected individuals in 139 families, researchers were able to identify variations in a single gene that increases the risk of osteoporosis. deCODE will earn an unspecified fee for the finding from Switzerland’s Roche Holding AG. deCODE also is working with Roche, the world’s biggest diagnostic company, on potential diagnostic tests for other conditions such as stroke, heart disease and cancer. Source: http://www.siliconvalley.com/mld/siliconvalley/news/4905636.htm

 

Gene Linked To Colon Cancer: Researchers at Jewish General Hospital have identified mutations in a gene, MSH2, which may increase the risk of colorectal cancer in Ashkenazi Jews. The mutation was first identified in a family five years ago. This led researchers to look for any association between the mutation and Ashkenazi Jews. They tested 2000 Jewish people from across Europe, Israel, North America and Australia. Results revealed that individuals with a family history of colorectal cancer were more likely to have the mutation than those without family history. Although the mutation is rare, it accounts for approximately one-third of hereditary nonpolyposis colorectal cancer cases in Ashkenazi Jewish families that meet the Amsterdam criteria indicating a strong family history of the disease. Source: Based on an article published in the American Journal of Human Genetics, December 2002; 71(6), 1395-1412, by Foulkes, W.,  Thiffault, I., Gruber, S., Horwitz, M., Hamel, N., Lee, C., et al.

 

 

Gene Discovery

Gene For Childhood Genetic Disorder Identified: An international team of researchers have identified two mutations in a gene, LRPPRC, that lead to the development of Leigh Syndrome French Canadian type (LSFC), which commonly affects children in the Saguenay-Lac St. Jean region of Quebec, Canada. Using genomics information from three types of datasets including human genome sequence, expression profiles and proteomics data researchers identified the gene, which, based on previous research, was thought to be related to mitochondrial function. The findings were confirmed by testing for the gene in patients, parents and controls. The finding will enable physicians to provide better prenatal diagnostic options and carrier testing for families in the region, and underscores the importance of genomic databases in identifying disease–causing genes. Source: http://www.eurekalert.org/pub_releases/2003-01/mu-itu011403.php. Based on an article published in the Proceedings of the National Academies of Sciences, January 21, 2003; 100 (2), 605-610, by Mootha, V., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M., et al.

 

Gene Variation May Protect Against Malaria: Researchers have identified a gene variation in people of the Melanesian Islands, which offers them protection against malaria. The variation in the gene, glycophorin C, prevents the parasite from binding to blood cell receptors. Thus people with the gene variation, who are referred to as “Gerbich negative,” may have lower parasite invasion in their red blood cells and consequently decreased severity of the disease. Earlier reports have found the same gene variation in forty-six percent of the population in coastal areas of Papua Guinea, an island of the Melanesian group. Based on an article published in the online journal Nature Medicine, January 2003; 9 (1), 87 – 92 by Maier, A., Duraisingh, M., Reeder, J., Patel, S., Kazura, J., Zimmerman, P., et al.

 

 

Maternal and Child Health

Gene Causing Shwachman-Diamond Syndrome Identified: In a study of 250 families from across the world affected with Shwachman-Diamond Syndrome (SDS), two mutations in a gene that lead to the development of the disease have been identified by researchers at the Hospital for Sick Children and the University of Toronto. SDS is a rare, autosomal recessive genetic disorder that affects many organs, including the hematological system. Researchers believe the findings will aid physicians in providing better diagnosis, screening and disease management opportunities for SDS affected families. Source: http://www.sickkids.on.ca/mediaroom/custom/sdsgene.asp. Based on an article published in the journal Nature Genetics, December 23, 2002; 33(1), 97-101 by Boocock, G., Morrison, J., Popovic, M., Richards, N., Ellis, L., Durie, P. and Rommens, J.

 

 

What’s New

Britain Plans Genetic Census: “U.K Biobank,” is a $120 million project that over the next 10-20 years aims to establish a database of medical and genetic information of 500,000 Britons. Biobank will be owned by a charity controlled by the British government, the Wellcome Trust and Medical Research Council. If the project goes forward, selected volunteers would be required to give blood samples, fill out a detailed health questionnaire and receive physical examination. Volunteers would then be followed for the next 10 years through their national health care records. The long-term goals are to understand the mechanisms by which genes and environmental factors such as smoking, alcohol, viruses and pollution interact and lead to the development of common diseases. Opponents of the project feel that it is too costly, unnecessary, and invades individuals’ privacy. Source: http://query.nytimes.com/gst/abstract.html?res=F50C1EF93F5B0C728FDDAB0994DA404482

 

Genetic Data Project Seeks To Build Custom Medication: Based on the fact that many people with similar lifestyles have differing susceptibility to the same disease and individuals respond differently to similar drugs, the Japanese government is planning to create a database of genetic information with the goal of developing customized medication. The project involves testing blood samples collected from 300,000 individuals suffering from diseases with life-style risk factors, such as diabetes, cancer and high blood pressure, to determine the relationship between diseases, single nucleotide polymorphisms and proteins. This information would be utilized to study susceptibility to certain diseases, the effects of drugs or radiation, and hopefully to create tailor-made treatments for each patient. Source: http://www.asahi.com/english/national/K2003010100139.html

 

Spanish Translations Of Human Genome Epidemiology Network Materials: Several fact sheets and other materials from the Human Genome Epidemiology Network are now available in Spanish on The Centers for Disease Control and Prevention’s website. The titles of recently translated materials are:

 

§         Making The Vision of Genomic Medicine A Reality: The Need for Public Health

 

To view these visit: http://www.cdc.gov/genomics/update/jan16.htm.

 

 

Funding

CDC Cooperative Agreement Funding Opportunity: Approximately $1,000,000 is available through cooperative agreements to fund three to five states’ program awards in 2003. The range of award is $150,000 to $250,000 with an average of $200,000. The funds should be utilized to further develop the State Health Department’s capacity in planning with other agency programs and outside partners and implementing the use of genomic information for developing effective public health policies and programs. Additionally, the funds can be used for data collection, surveillance systems and improved disease prevention activities by improving the public health workforces’ genomics capacity. However, funds cannot be used for genomics research. The following are some of the responsibilities for recipients of funds:

  1. Establish or expand leadership capacity in genomics;
  2. Develop population based assessments and utilize genomic information in disease-specific data collection through surveillance and registries;
  3. Educate the population, policy makers and public health workforce about importance of genetic risk factors in disease etiology and prevention; and
  4. Prepare the chronic disease workforce to understand the limitations of genetic tests and utilize genetic tools for reducing specific disease burden.

For more information on this opportunity, please visit http://www.cdc-cafunding.org/peps/2003peps/pep021.htm

 

Evaluation Of A Family History Tool For Health Promotion And Disease Prevention: Although family history is a risk factor for most chronic diseases of public health significance, it is underutilized in the practice of preventive medicine and public health for assessing disease risk and influencing early detection and prevention strategies. In early 2002, the Office of Genomics and Disease Prevention (OGDP) began an initiative to develop a family history tool for identifying apparently healthy people who may be at increased risk for a number of common diseases. The tool will be a self-administered questionnaire that can be administered either on paper or as an interactive computer program. The Family History Working Group is expected to have a family history tool ready for evaluation by Spring 2003. The goal of this project is not to conduct a comprehensive evaluation of the tool that covers each element. Approximately 3 research centers will be funded to conduct the study described above. Ideally, each center will conduct the study in a different setting, for example, in a community-based, managed care, or other clinical setting. Preference will be given to applicants who are knowledgeable and experienced in the fields of evaluation methodology, epidemiological research, and behavioral research. Total length of the project is three years with a funding of approximately $400,000 per center per year. For more information visit: http://www.cdc-cafunding.org/peps/2003peps/pep021.htm.

 

 

Events

February 1-5, 2003: 50 Years On: From the Double Helix to Molecular Medicine, Miami, Florida. Visit: www.med.miami.edu/mnbws/

 

February 6-9, 2003: Third Annual Short Course on Statistical Genetics for Obesity and Nutrition Researchers, National Institute of Diabetes and Digestive and Kidney Diseases, University of Alabama at Birmingham. Visit: www.soph.uab.edu/Statgenetics/ShortC/ShortC.htm

 

March 13-16, 2003: ACMG Annual Clinical Genetics Meeting, San Diego, California. Visit: www.acmg.net/

 

March 25, 2003: The Genetics of Rare Disease, Window to Common Disorders, Washington, DC. Visit: https://www.mededweb.com/securepages/ndri/conference.html.

 

March 27-28, 2003: Genetic Bonds and Family Law: The Challenge of DNA Parentage Testing, New Orleans, LA. Visit: http://www.aslme.org/conferences/gen_03/index.php.

 

April 10, 2003: Genetics in Primary Care: A Brown-Oxford Transatlantic Videoconference Providence, RI and London, UK. Visit: http://www.brown.edu/Research/Primary_Care/genetics/

 

April 14-15, 2003: 50 Years of DNA: From Double Helix to Health, Washington, DC. Visit: www.genome.gov/page.cfm?pageID=10005139

 

April 25, 2003: DNA: 50 years of the double helix, Cambridge, UK. Visit: www2.mrc-lmb.cam.ac.uk/dna2003/

 

April 27-30 2003: HUGO, Human Genome Meeting, Cancún, Mexico. Visit: http://hgm2003.hgu.mrc.ac.uk/

 

May 3-6, 2003: European Human Genetics Conference, Birmingham, England. Visit: www.eshg.org/bham_2003.htm

 

May 5, 2003: Genomics and the Future of Public Health Symposium, Centers for Disease Control and Prevention. Atlanta, Georgia. Visit: http://www.cdc.gov/genomics/events/special2.htm

 

May 6, 2003: Human Genome Epidemiology (HuGE) Workshop, Centers for Disease Control and Prevention. Atlanta, Georgia. Visit: http://www.cdc.gov/genomics/events/special2.htm

 

May 12–16, 2003: The UCLA-CASE Fellowship Program, UCLA will host a fellowship program to inform journalists about leading experts' positions on the sweeping medical and societal changes brought by the genetics field to society and individuals. Visit: http://www.eurekalert.org/pub_releases/2003-01/uoc--uoc010303.php  

 

May 22-24, 2003: International Conference on Genetic Variation, Nutrition and Physical Activity, Italy. Visit: www.cdc.gov/genomics/events/special4.htm

 

May 28 - June 2, 2003: 68th Cold Spring Harbor Symposium on Quantitative Biology: The Genome of Homo Sapiens, Cold Spring Harbor, New York. Visit: http://meetings.cshl.org/2003/2003Symp.htm

 

August 3-8, 2003: Human Genetics and Genomics, Colby College, Waterville, ME. Visit: http://www.grc.uri.edu/programs/2003/humangen.htm

 

 

 

 GENOMICS IMPACT is supported through a cooperative agreement with the Centers for Disease Control and Prevention. If you have any comments or questions, or would like to contribute to Genomics Impact, please contact Amit K. Powar at apowar@astho.org

 

ASTHO Genetics Project Staff: Amy Klein, MPH, Director, Genetics, Aklein@astho.org, Laura Sternesky, MPA, Senior Policy Analyst, Genetics, Lsternesky@astho.org and Amit K. Powar, MD, Genetics Intern, apowar@astho.org

 

The Association of State and Territorial Health Officials (ASTHO) is the national nonprofit organization representing the state and territorial public health agencies of the United States, the U.S. Territories, and the District of Columbia. ASTHO's members, the chief health officials of these jurisdictions, are dedicated to formulating and influencing sound public health policy, and to assuring excellence in state-based public health practice.