Links to Newsletter Features
State Profile
§ Genomics in Hawaii
Policy
§ State Legislation Highlight
§ Genetic Test Adverts Under Scrutiny
Chronic Diseases
§ Potential Blood Test for Colon Cancer Risk
§ Metastasis Gene May Be Useful for Diagnosis and Treatment of Liver Cancer
Gene Discovery
§ Gene Responsible for Developmental Disorder Identified
Bioterrorism
§ University of Ulster Develops DNA Fingerprint Techniques to Fight Bioterrorism
Women's Health
§ Two Genes Found Key in Parkinson's Risk in Women
§ Gene May Trigger Idiopathic Epilepsy
Maternal and Child Health
§ High Risk Women Welcome Genetic Testing for Breast Cancer Gene
Pharmacogenomics
§ Regression to the Truth: Replication of Association in Pharmacogenetic Studies
§ Spanish "Talking Glossary of Genetics" Launched Online
§ Resource Materials on National Newborn Screening and Genetics Resource Center's (NNSGRC) Web Site
Career Development
§ Career Development Opportunities in Public Health Research and Practice
Events
§
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State Profile
The Hawaii Department of Health's Genetics Program is located within the Children with Special Health Care Needs (CSHCN) Branch of the Division of Family Health. Sylvia Au, state genetics coordinator since the position was created in 1993, feels that this location is ideal for the growth of her program, as it allows her to communicate freely with other branches (e.g., chronic disease). Ms. Au "administers grants, coordinates educational activities, develops legislation, and provides supervision, coordination and oversight for genetics activities." Ms. Au's staff consists of three genetic counselors, several staff members and volunteers that work on Hawaii-based and joint multi-state projects.
Hawaii's Genetics Program encompasses several programs and projects. The Newborn Metabolic Screening Program, which began in 1965 with screening for PKU, now screens 99.7% of its newborns (over 17,000) in Hawaii for seven disorders, and provides follow-up for those infants identified during screening. The program will expand to using tandem mass spectrometry to screen for 24 or more disorders in September 2003. The program, which has its own coordinator and staff, is funded through fee collection and is self-supporting. The program is guided by the efforts of a Newborn Screening Advisory Committee. The Birth Defects Program also is located within the CSHCN Branch, and collects and analyzes data statewide related to birth defects in infants up to one year of age. The program is funded by federal funds and part of the marriage license fee. The program also has its own coordinator, staff, and advisory committee. Additionally, the Newborn Hearing Screening (NBHS) Program also has its own coordinator and screens over 97% of the newborns statewide for hearing loss. The Genetics Program is collaborating with the NBHS Program to implement genetic counseling and evaluation as part of the follow-up program.
The Genetics Program also administers several projects that are supported by the U.S. Health Resources and Services Administration, Maternal and Child Health Bureau, Genetics Services Branch. These include the Hawaii Genetic Assessment and Planning Project, which involves an expanded community-based needs assessments and revision of the 1993 state plan (the first assessment was done in 1985). Building on the accomplishments of the first plan, the revised plan, which is scheduled for public release next month, will be more community-based in that it relies not only on information from the Department of Health, but also from the community regarding its needs. Before publication, the plan went through a public comment period. Ms. Au received considerable consumer interest in the plan due to her efforts to include the community in the process through focus groups, community talks, newspaper articles, and word-of-mouth.
Another Genetics Program project is the Hawaii Genetic Awareness, Implementation, and Data Project (GeneAID). There are three components to this project-genetic awareness in the community, implementation of genetics into public health programs, and data integration. As part of the awareness piece, the Genetics Program has sponsored an annual conference series, "The Impact of Genetics on Public Health: Putting the Pieces Together." The second annual conference, held in Spring 2002, included over 100 public health professionals from across the state. Experts spoke on a variety of topics, including genetics fundamentals, the Human Genome Project, expanded newborn screening in Hawaii, updates on the state Genetics Program's activities, current genetics legislation, HIPAA, and the genetics of hearing loss and autism. In Spring 2003, the Hawaii program will offer a health care provider conference focusing on breast cancer, colon cancer, diabetes, and cardiovascular disease-issues identified in a physician needs assessment. Ms. Au states that they "constantly have awareness activities going on." Other educational efforts of the program include Gene News, a newsletter which is mailed to over 1,400 primary care providers, consumers, public health staff, teachers, and institutions. The implementation part of the GeneAID project involves a pilot program to implement a genetics component into the chronic disease program. This fall a breast cancer counseling program will be piloted. Ms. Au is also involved in the University of Hawaii School of Public Health's efforts to establish public health genetics courses, which will start with seminars, and develop into credit courses.
Ms. Au also oversees the "Tandem Mass Spectrometry: Financial, Ethical, Legal, and Social Issues Project (MS/MS Project)," a multi-state initiative. The states involved in this project are Hawaii, California, Oregon, Washington, Alaska, and Idaho. This project will investigate the financial, ethical, legal and social issues surrounding the use of tandem mass spectrometry technology to detect an increased number of metabolic disorders in newborns. A major focus of the project is research to determine how health care provider and families view newborn screening and what information is needed to help explain newborn screening to families. Based on the research findings, educational materials will be developed.
As an island state, Hawaii has several characteristics that make it unique, including a diverse multi-ethnic population, which must be considered when developing public health genetics programs. Given the many programs and committees under the purview of the Genetics Program, the small size of the state works to their advantage in terms of coordination; as Ms. Au puts it, "everyone is on everyone else's committee." Also, by locating all genetics-related activities under one branch chief, coordination is facilitated. As the Genetics Program staff continues its efforts to educate the public health workforce and the community at-large, genetics will be increasingly recognized as an important aspect of Hawaii's health.
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Policy
State Legislation Highlight: In the month of March, no new bills related to genetics were introduced by states. 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>.
Genetic Test Advertisements Under Scrutiny: Salt Lake City-based Myriad Genetics marketed a genetic breast cancer test directly to consumers in Denver and Atlanta from September 2002 until February 2003. To estimate the impact of this campaign on women, the Office of Genomics and Disease Prevention at the Centers for Disease Control and Prevention will send 2,400 questionnaires to consumers and physicians in these areas. In addition to identifying whether the test increased knowledge or fears about genetic testing, the questionnaire also will identify whether more women sought medical advice due to the advertisements. Future policy decisions concerning direct-to-consumer marketing of genetic tests could benefit from the findings of this investigation. Source: http://www.nature.com/nsu/030317/030317-3.html <http://www.nature.com/nsu/030317/030317 - 3.html>
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Chronic Diseases
Potential Blood Test for Colon Cancer Risk: Researchers at Johns Hopkins University have identified a genetic marker which can identify individuals who may be at greater risk of developing the most common types of colon cancer. In a study of 172 individuals undergoing colonoscopy, the genetic marker was identified in 25 individuals. The likelihood of having the genetic marker increased by 3.5 times in individuals with polyps, 5 times in individuals with family history of colon cancer and 22 times in individuals with a personal history of colon cancer. Additionally, in all 25 individuals whose blood tested positive for the marker, the marker also was found in colonic tissue. Researchers plan to conduct a larger study, following patients who tested positive over time, to see if they develop cancer. Presently, the blood test is available only for research purposes and it may be years before a diagnostic test can be developed. Source: www.hopkinsmedicine.org/press/2003/March/030313.htm <http://www.hopkinsmedicine.org/press/2003/March/030313.htm> Based on an article published in the journal Science, March 14, 2003, 1753-1755 by Cui, H., Cruz-Correa, M., Giardiello, F., Hutcheon, D., Kafonek, D., Brandenburg, S., et al.
Metastasis Gene May Be Useful for Diagnosis and Treatment of Liver Cancer: Researchers may be able to predict whether hepatocellular carcinoma, a common form of liver cancer, will spread or not, by analyzing the activity of certain genes in tumor cells and the presence of a specific gene, osteopontin. Researchers analyzed 9,000 genes that are active in a tumor cell and identified 153 genes that could be used to distinguish between spreading and non-spreading tumors. Results were confirmed by testing these genes to identify 40 tumor samples with known clinical outcomes. The test correctly identified 82 percent of tumors with potential to metastasize and 67 percent of those that did not spread. Researchers also found that the presence of high levels of osteopontin in tumor cells favored spreading, and blocking its action prevented cells from spreading in laboratory experiments. Researchers believe osteopontin could be an excellent diagnostic marker and target for therapeutic treatment in the future. Source: <http://www.nih.gov/news/pr/mar2003/nci-16.htm>
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Gene Discovery
Gene Responsible for Developmental Disorder Identified: Researchers from Michigan State University have identified a single gene, RAI1, which when mutated, can lead to Smith-Magenis Syndrome (SMS). SMS is a rare, genetic developmental disorder that affects 1 in 25,000 births. As the disease manifests in many different ways, it was believed that many genes were involved in the disease, but this study indicates that RAI1 is the gene primarily responsible for the condition. An early diagnosis could lead to better outcomes and researchers hope that learning more about the interaction of the gene with other proteins may help in developing treatment modalities in the future. Source: <http://www.eurekalert.org/pub_releases/2003-03/msu-grf032003.php>. Based on an article published in the on-line journal Nature Genetics, March 24, 2003 doi:10.1038/ng1126 by Slager, R., Newton, T., Vlangos, C., Finucane, B., Elsea, S.
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Bioterrorism
University of Ulster Develops DNA Fingerprint Techniques to Fight Bioterrorism: Dr. Colm Lowery, at the School of Biological and Environmental Sciences at the University of Ulster, has developed a DNA finger printing technique to trace bioterrorist agents. In comparison to available techniques that take up to 5 days to detect biological agents such as Clostridium Botulinum and Cryptosporidium, the new technique would take 15 minutes to detect the agent. Identifying the source of a bioterrorism attack early could greatly improve prevention and treatment of victims. According to Dr. Lowery, the technique can be used for monitoring of bioterrorist agents in food and water supply chains and in other areas of medical research. He has been invited to the Centers for Disease Control and Prevention in Atlanta to work on bioterrorism issues and also will be involved in evaluating the U.S. military's biodetection hardware. Source: <http://www.eurekalert.org/pub_releases/2003-03/uou-uou031003.php>
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Women's Health
Two Genes Found Key in Parkinson's Risk in Women: Researchers at the Mayo Clinic have found that variations in two genes-alpha-synuclein and UCHL1-may increase the risk of developing Parkinson's disease in women. In the study, they analyzed blood samples of 319 unrelated individuals with Parkinson's and 196 healthy individuals. Interaction of the genes did not seem to affect the risk of Parkinson's in males. Researchers believe the two genes play a significant role in the development of Parkinson's in women, unlike in men, where environmental and other factors such as exposure to pesticides and chemicals may play a more significant role than genes. Further research is needed to understand the sex differentiation and gene-environment interaction in the development of Parkinson's. Source: <http://www.nlm.nih.gov/medlineplus/news/fullstory_12061.html> Based on an article published in the journal Movement Disorders, March 18, 2003; by Maraganore, D., Andrade, M., Lesnick, T., Farrer, M., Bower, J., Hardy, J., et al.
Gene May Trigger Idiopathic Epilepsy: Researchers from Germany believe they have identified a gene that when mutated can lead to idiopathic epilepsy. Researchers studied 46 families, each with at least 2 members suffering from idiopathic epilepsy. The study also included 360 healthy individuals. Members from 3 families were identified with the mutated gene while none of the healthy individuals carried the mutated gene. In families with the mutated gene, only the individual suffering from epilepsy carried the gene, while other healthy members did not carry it. More research is needed to identify other genes involved in the process. Source: <http://www.health-news.co.uk/showstory.asp?id=107693> Based on an article published in the journal Nature Genetics, March 3, 2003 doi:10.1038/ng1121by Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramírez, A., Poser, B., et al.
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Maternal and Child Health
High Risk Women Welcome Genetic Testing for Breast Cancer Gene: Researchers from the School of Medicine at the University of Pennsylvania have shown that contrary to many health care professionals' belief, the knowledge of carrying a breast cancer gene by genetic testing does not lead to increased emotional stress in women. Researchers analyzed the reaction of 196 women who were offered genetic testing, counseling and information about medical and surgical alternatives if they tested positive. The study revealed that "being offered genetic testing is not a significant mental health risk" and that it may in fact be more stressful for women with a family history of breast cancer not to know whether they are genetically susceptible. Results also show that testing helps women to understand the situation and enables them to change behaviors, make informed decisions, and lead a healthy life style. Source: <http://www.eurekalert.org/pub_releases/2003-03/uopm-hww030603.php> Based on an article published in the American Journal of Medical Genetics, April 2003: 118A(3); by Botkin, J., Smith, K., Croyle, R., Baty, B., Wylie, J., Dutson, D., et al.
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Pharmacogenomics
Regression to the Truth: Replication of Association in Pharmacogenetic Studies: According to an article in the journal, Pharmacogenomics, the successful introduction of pharmacogenetics in clinical medicine will require large population-based studies. However, a relationship between a particular genotype and clinical phenotype demonstrated through replication of initial studies will be essential to justify large and expensive studies. According to the author, large clinical studies to evaluate the usefulness of genetically targeted therapy must only be performed when the possible economic and health consequences are considerable and results of pharmacogenetic association studies are convincing. Based on an article published in the journal Pharmacogenomics, March 2003: 4(2): 201-207 by Ryan SG.
Spanish "Talking Glossary of Genetics" Launched Online: To ensure that Spanish-speaking individuals stay abreast of recent advances in genetics and to ensure that benefits of the Human Genome project are available for all individuals, the National Human Genome Research Institute has launched an online "Spanish Talking Glossary of Genetics." The glossary includes approximately 150 terms including definitions, pronunciation guides, and diagrams. Additionally, a limited edition CD-ROM of the glossary, which is both Windows and Macintosh compatible, is also being made available for libraries and educators at no cost. The glossary can be visited at www.genome.gov/sglossary.cfm <http://www.genome.gov/sglossary.cfm> Source: <http://www.genome.gov/10506955>
Resource Materials on National Newborn Screening and Genetics Resource Center's (NNSGRC) Web Site: Details of the proceedings of the Technical Assistance Meeting for the Newborn Screening (NBS) and Genetics Infrastructure Grants that took place on October 10-11, 2002, have been posted on the NNSGRC web site. The materials include a compilation of resource materials, presentations, service and data flow charts, project abstracts, fact sheets, Genetics Briefs and other materials on NBS infrastructure development. In addition, a final draft of the materials entitled "Integration of Newborn Screening and Genetic Service Systems with Other Maternal and Child Health Systems: A SourceBook for Planning and Development" is also included in the resources section. The book recognizes and illustrates best practices that lead to the integration of metabolic screening programs with other public health programs. The web site also includes a list of 13 State Genetics Plans. Source: <http://genes-r-us.uthscsa.edu/index.htm>
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Career Development
Career Development Opportunities in Public Health Research and Practice: Applications are being accepted until April 18, 2003, for a position "Assessing the Impact of Genetic Variation on Human Susceptibility to Environmental Chemicals" sponsored by the Association of Teachers of Preventive Medicine in collaboration with the Centers for Disease Control and Prevention. The position will start in mid-2003 for one year with a possibility of extending up to three years. The objective is to enhance the Agency for Toxic Substances and Disease Registry's (ATSDR) current activities and to develop new approaches in assembling, analyzing, evaluating and disseminating existing information on the impact of human genetic variation on susceptibility to health effects caused by environmental chemicals. For more information visit: www.atpm.org/training/career_development/career_development.html <http://www.atpm.org/training/career_development/career_development.html>.
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Events
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 13th, 2003: Linking the Double Helix with Health: Genetics in Nursing, Georgetown University School of Nursing and Health Studies, Washington, DC. Visit: <http://www.nih.gov/ninr/news-info/meetings.html>
April 14-15, 2003: 50 Years of DNA: From Double Helix to Health, Washington, DC. Visit: www.genome.gov/page.cfm?pageID=10005139 <http://www.genome.gov/page.cfm?pageID=10005139>
April 16, 2003: Genetic Variation and Gene X Environment Interactions in Human Health and Disease, Bethesda, MD. Visit: <http://www-apps.niehs.nih.gov/odconfer/gxe/home.htm>
April 25, 2003: DNA: 50 Years of the Double Helix, Cambridge, UK. Visit: www2.mrc-lmb.cam.ac.uk/dna2003/ <http://www2.mrc-lmb.cam.ac.uk/dna2003/>
April 27-30 2003: HUGO, Human Genome Meeting, <http://hgm2003.hgu.mrc.ac.uk/>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 <http://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: www.cdc.gov/genomics/events/special2.htm <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: www.cdc.gov/genomics/events/special2.htm <http://www.cdc.gov/genomics/events/special2.htm>
May 12-16, 2003: The UCLA-CASE Fellowship Program, will inform journalists about leading experts' positions on the sweeping medical and societal changes brought by the genetics field to society and individuals. Visit: www.eurekalert.org/pub_releases/2003-01/uoc--uoc010303.php <http://www.eurekalert.org/pub_releases/2003-01/uoc--uoc010303.php>
May 19-20, 2003: EDGE course, Ethical and Legal Considerations for Genetic Research, Washington, DC. Visit: www.louisville.edu/medschool/ibhpl/courses/edge/index.html <http://www.louisville.edu/medschool/ibhpl/courses/edge/index.html>
May 22-24, 2003: International Conference on Genetic Variation, Nutrition and Physical Activity, Italy. Visit: www.cdc.gov/genomics/events/special4.htm <http://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>
July 6-11, 2003: 2003 International Congress of Genetics, Melbourne, Australia. Visit: www.geneticscongress2003.com/index.php <http://www.geneticscongress2003.com/index.php>.
June 11-12, 2003: Secretary's Advisory Committee on Genetics, Health, and Society, Washington, DC. Visit: <http://www4.od.nih.gov/oba/sacghs/sacghsmtg.htm>
August 3-8, 2003: Human Genetics and Genomics, Colby College, Waterville, ME. Visit: www.grc.uri.edu/programs/2003/humangen.htm <http://www.grc.uri.edu/programs/2003/humangen.htm>
September 29-30, 2003: EDGE course, Ethical and Legal Considerations for Genetic Research, Atlanta, Georgia. Visit: www.louisville.edu/medschool/ibhpl/courses/edge/index.html <http://www.louisville.edu/medschool/ibhpl/courses/edge/index.html>
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GENOMICS IMPACT is supported through cooperative agreements with the Centers for Disease Control and Prevention and the Health Resources and Services Administration. If you have any comments or questions, or would like to contribute to Genomics Impact, please contact Amit K. Powar at apowar@astho.org <mailto:apowar@astho.org>
ASTHO Genetics Project Staff: Amy Klein, MPH, Director, Genetics, Aklein@astho.org <mailto:Aklein@astho.org>, Laura Sternesky, MPA, Senior Policy Analyst, Genetics, Lsternesky@astho.org <mailto:Lsternesky@astho.org> and Amit K. Powar, MD, Genetics Intern, apowar@astho.org <mailto:apowar@astho.org>
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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.
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