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February 2007 Posts
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February 22, 2007

Individuals with Genetic Conditions Twice as Likely to Report Denial of Health Insurance than Individuals with Other Chronic Illness

This study looks at the knowledge, attitudes, and beliefs of people with overt genetic disease about health insurance and reports that people with genetic diseases are more likely to have been denied health insurance benefits than people with other chronic diseases. The work was lead by Nancy Kass, ScD from Johns Hopkins University School of Public Health and is published in the Februrary issue of the American Journal of Medical Genetics.

The complete news release from Johns Hopkins is below.

Large-Scale Study Compares Health Insurance Experiences, Attitudes, and Beliefs of People with Genetic Conditions vs. People with Other Serious Medical Conditions

February 12, 2007--A new study published in the February 2007 issue of the American Journal of Medical Genetics reveals that individuals with genetic conditions are twice as likely to report having been denied health insurance than individuals with other chronic illnesses.

The Johns Hopkins University study also found that nearly 60 percent of all study participants believe a health insurance company can obtain medical information about them without their permission. Researchers conducted in-depth, personal interviews of 597 adults for the project, believed to be the first large-scale study to systematically compare and contrast the health insurance experiences, attitudes, and beliefs of persons with genetic conditions versus individuals with other serious medical conditions. Respondents (or their children) had sickle cell disease, cystic fibrosis, breast cancer, colon cancer, diabetes, or HIV.

“Anyone with chronic medical conditions should be legitimately concerned about access to health insurance, but individuals with genetic conditions may have additional reasons to worry,? said principal investigator Nancy Kass, ScD, deputy director for public health at the Johns Hopkins Berman Institute of Bioethics and a professor at the Johns Hopkins Bloomberg School of Public Health. “We learned that there is considerable concern about being denied health insurance because of a genetic condition, as well as maintaining some privacy about the status of that condition.?

In the study, more than a quarter (27 percent) of individuals with genetic conditions and serious medical conditions reported having been denied health insurance or offered it at a prohibitive rate. Further, those with genetic conditions were twice as likely to report having been denied health insurance or offered it at a prohibitive rate than individuals with other medical conditions. Individuals with genetic conditions were also more likely to report that their insurance company had limited the coverage related specifically to their condition than did individuals interviewed who had other types of medical conditions (23.5 percent vs. 14.2 percent).

Almost all of the individuals in the study (89.7 percent) said they obtained their health insurance through either their employer (59.4 percent) or their spouse’s employer (30.8 percent). Nearly half of employed individuals (48.9 percent) said they felt they could not leave their jobs because they would lose their health insurance. Individuals with genetic conditions were also more likely to report trying to obtain additional health insurance compared to individuals with other serious medical conditions. Only 67.2 percent of these individuals reported success in obtaining additional health insurance.

In other findings, individuals with HIV were most likely to believe that (68 percent vs. 49 percent overall) that healthcare providers would not send specific test results to health insurance companies if asked not to.

At the federal level, the Americans with Disabilities Act proscribes discrimination against persons with disabilities which includes those with genetically-related conditions. The Health Insurance Portability and Accountability Act (HIPAA) expressly forbids a group health insurance plan from using genetic information to establish rules for eligibility or continued eligibility. HIPAA also prohibits insurance companies from treating genetic information as a “pre-existing condition in the absence of the diagnosis of the condition related to such information.? Individuals cannot be denied health care coverage for a medical condition as a result of a genetic marker for the condition. However, individuals can be denied if they have symptoms of genetic disease. As such, HIPAA provides no protection for the vast majority of respondents in the new study.

“As we spoke to family after family, it became clear that people with all types of medical conditions are quite worried about access to health insurance and make life changes in order to preserve their access to it,? added Kass. “But people with genetic conditions may face additional challenges, an area that is worth further examination. Bioethicists are problem-finders, and we found a big one.?

For purposes of the study, the research team identified individuals with single genetic disorders as having either cystic fibrosis or sickle cell disease. Individuals classified in the study as having other chronic illnesses were persons with diabetes, HIV, breast cancer, or colon cancer. A small number of individuals with a strong family history of breast cancer or colon cancer were considered “at risk,? and were also classified as persons with chronic illnesses.

The new study is one of the first large-scale research projects to gather systematic data from individuals documenting their actual experiences. The project was supported by a grant from the National Institute for Human Genome Research, National Institutes of Health. Study participants enrolled from March 1996 to February 2000, and ranged in age from 18 to 64. The project team included researchers from the Johns Hopkins Berman Institute of Bioethics, Johns Hopkins Bloomberg School of Public Health, Cleveland Clinic Foundation, National Institutes of Health, and Georgetown University.


February 21, 2007

U of M researchers discover protein linked to elevated body mass index in people of American Indian and Mexican ancestry

This may be an important step to help understand more about the biological pathways that lead to obesity and diabetes in American Indian and Mexican people. It may also result in more or better tools to intervene more effectively to help these people have better health.

The importance of this finding is summarized in this quote from the news release from the University of Minnesota College of Biological Sciences:

Lead investigator Gary Nelsestuen, a professor in the College of Biological Sciences' department of biochemistry, said the abnormal protein may promote metabolic efficiency and storage of body fat when food is abundant. This could have provided a survival advantage to American Indians in the past when food was scarce. The discovery can be used to identify those who are at risk for diabetes and to guide diet and lifestyle choices to prevent diabetes.


Apolipoprotein C1 is a component of high density lipoprotein (HDL) and low density lipoprotein (LDL). HDL cholesterol is often referred to as good cholesterol, while LDL is called bad cholesterol. The common form of C1 tends to be found in the high-density protein complexes (HDL) that ferry cholesterol to storage depots in the body and are linked to lower cardiovascular disease risk. But the variant form of C1 tends to become part of low density protein complexes (LDL), which transport cholesterol to arterial walls and are associated with higher cardiovascular disease risk. Thus, having the variant could tip the balance of cholesterol carriers and lead toward depletion of HDL-also a risk factor for heart disease. The variant differs from the normal protein by a single change in one of its 57 amino acids.

Among 1500 subjects from widely divergent genetic backgrounds, the variant was found in 35 of 228 persons with American Indian ancestry and in 10 of 84 persons with Mexican ancestry. The average body mass index (BMI) of persons with the variant protein was 9 percent higher and the diabetes rate 50 percent higher among study subjects and their parents. Parents were included because type 2 diabetes often doesn't appear until later in life.

For the text of the entire news release, see below. The article has been published online by the International Journal of Obesity on February 20, 2007.

~ Protein is linked to elevated body mass index, obesity and Type 2 diabetes ~

MINNEAPOLIS / ST. PAUL ( 2/20/2007 ) -- University of Minnesota researchers have discovered a variant of a common blood protein, apolipoprotein C1, in people of American Indian and Mexican ancestry that is linked to elevated body mass index (BMI), obesity and Type 2 diabetes.

The finding will be published in the Feb. 20 online issue of the International Journal of Obesity.

Lead investigator Gary Nelsestuen, a professor in the College of Biological Sciences' department of biochemistry, said the abnormal protein may promote metabolic efficiency and storage of body fat when food is abundant. This could have provided a survival advantage to American Indians in the past when food was scarce. The discovery can be used to identify those who are at risk for diabetes and to guide diet and lifestyle choices to prevent diabetes.

Apolipoprotein C1 is a component of high density lipoprotein (HDL) and low density lipoprotein (LDL). HDL cholesterol is often referred to as good cholesterol, while LDL is called bad cholesterol. The common form of C1 tends to be found in the high-density protein complexes (HDL) that ferry cholesterol to storage depots in the body and are linked to lower cardiovascular disease risk. But the variant form of C1 tends to become part of low density protein complexes (LDL), which transport cholesterol to arterial walls and are associated with higher cardiovascular disease risk. Thus, having the variant could tip the balance of cholesterol carriers and lead toward depletion of HDL-also a risk factor for heart disease. The variant differs from the normal protein by a single change in one of its 57 amino acids.

Among 1500 subjects from widely divergent genetic backgrounds, the variant was found in 35 of 228 persons with American Indian ancestry and in 10 of 84 persons with Mexican ancestry. The average body mass index (BMI) of persons with the variant protein was 9 percent higher and the diabetes rate 50 percent higher among study subjects and their parents. Parents were included because type 2 diabetes often doesn't appear until later in life.

This project has been a departure for Nelsestuen, who has made important discoveries related to blood coagulation proteins involved in bleeding disorders such as hemophilia and coagulation disorders such as sepsis and thrombosis. The university has licensed these proteins to three pharmaceutical companies who are developing them as therapeutic agents. Nelsestuen is recognized on the university's Wall of Discovery for some of these achievements.

Nelsestuen used income from the blood coagulation protein licenses and his endowment from the Samuel Kirkwood Chair to support the research that led to finding the abnormal variant of C1 lipoprotein.

The funds were used to apply new proteomics technology to screen blood samples for proteins related to disease. This type of protein screening is often described as "discovery" research. In its purest form, proteomics discovery research looks for abnormal proteins in what seems like a random process.

"This type of research is often dismissed as a fishing expedition by funding agencies," Nelsestuen said. "But our finding shows the value of discovery research and of having unrestricted funds to pursue it."

Nelsestuen's interest in education of minority graduate students provided many of the connections to the communities that became involved in this research. Former student Michael Martinez, helped establish a collaboration with Kenneth McMillan, medical director of the American Indian Community Development Corporation in Minneapolis, and Cristina Flood-Urdangarin of St. Mary's Health Clinics in St. Paul.

Nelsestuen's next steps will be to expand the study to the Turtle Mountain Indian Reservation in North Dakota and the Cheyenne River Indian Reservation in South Dakota.

"I hope that this discovery will ultimately lead to a Minnesota center for research on minority health issues that can deliver actual health benefits to these communities," Nelsestuen said.


Carnegie Mellon, Blue Shield Study Shows Expanded Case Management For Serious Illnesses Improves Health Outcomes, Reduces Costs

In a study that provides evidence for what most of us know to be intuitively obvious, Blue Cross and Blue Shield and Carnegie Mellon University confirm that when people with chronic conditons have access to case managers to help them coordinate their care, the health plan saved money and the patients were more satisfied.

Money quote:

New research shows a patient-centered case management program designed to improve health care quality and reduce medical expenses for those with complex or clinically advanced illnesses resulted in a 38 percent decrease in hospital admissions, reduced costs by more than $18,000 per patient and garnered high patient-satisfaction scores.

Read more about it at Carnegie Mellon University's website.

Progress Is Reported on a Type of Autism

Nicholas Wade reports on new and unexpected findings in the study of one type of autism in today's New York Times. Rett syndrome is unusual in that it is caused by alterations in a single gene and affects mostly girls. Typically, girls with Rett syndrome develop normally until about age three or so, then become progressively disabled, showing characteristic losses in development, ability to interact with their environment and coordination. Rett syndrome is associated with alterations in the gene MECP2.

The present work suggests that the neurological findings associated with Rett Syndrome may be reversible, if the activity of MECP2 can be restored even at fairly advanced age, at least in mice. This is contrary to common wisdom, which holds that neurological development proceeds as a series of opening and closing developmental "windows" and that the consequence of missing one of these developmental windows is that the associated function is lost or significantly limited from that point forward. Papers that outline the approach that led to these surprising results were published independently in Science by Dr. Adrian Bird and Dr. Guy Jacky and in the Proceedings of the National Academy of Sciences by Dr. Rudolph Jaenisch and colleagues.

Genetic Tests Offer Promise, but Raise Questions, Too

Genetic tests, an early fruit of the Human Genome Project, are being used more and more in the diagnosis and treatment of human health conditions. However, there is very little regulation or oversight of genetic tests, especially when compared to other high tech products such as pharmaceuticals. In fact, many people compare the developing world of genetic testing to the Wild West where just about anything goes, where tests are not validated adequately and may be purchased directly from laboratories without any input or interpretation by health care professionals.

Lately, there have been rumblings from agencies such as the Food and Drug Administration within the US Government that it is time that the Wild West is tamed. Naturally, the purveyors of these genetic testing projects are concerned that regulation will be heavy handed and will stifle innovation. Others feel that these developing tests should be governed by the free market and be available to consumers who want them. Regulators and many withing the medical community are concerned that consumers will be given information that is not accurate and be harmed in the process. The only thing that is really clear that this is the beginning of a process that will almost certainly end with some type of regulatory framework in place.

In the February 18, 2007 issue of the New York Times, Denise Caruso reflects on many of these issues in a thoughtful essay. She raises more questions than she answers but she frames many of issues in useful ways that account for the many relevant perspectives Ms. Caruso is the is executive director of the Hybrid Vigor Institute, which studies collaborative problem-solving.

February 17, 2007

The Genomic Research and Accessibility Act

The text of The Genomic Research and Accessibility Act is short and to the point.


1st Session

H. R. 977
To amend title 35, United States Code, to prohibit the patenting of human genetic material.


February 9, 2007
Mr. BECERRA (for himself and Mr. WELDON of Florida) introduced the following bill; which was referred to the Committee on the Judiciary


To amend title 35, United States Code, to prohibit the patenting of human genetic material.

Be it enacted by the Senate and House of Representatives of the United States of America in Congress assembled,


This Act may be cited as the `Genomic Research and Accessibility Act'.


(a) In General- Chapter 10 of title 35, United States Code, is amended by adding at the end the following new section:

`Sec. 106. Prohibition on patent of human genetic material

`Notwithstanding any other provision of law, no patent may be obtained for a nucleotide sequence, or its functions or correlations, or the naturally occurring products it specifies.'.

(b) Table of Contents- The table of sections of chapter 10 of title 35, United States Code, is amended by adding at the end the following:

`106. Prohibition on patent of human genetic material.'.

(c) Applicability- The amendment made by subsection (a) shall not apply to a patent issued before the date of the enactment of this Act.

Text of this legislation is courtesy of the Library of Congress' Thomas web portal.

Gene Patenting: Can you own something that belongs to all of us?

Michael Crichton doesn't think so.

Money Quote:

Gene patents are now used to halt research, prevent medical testing and keep vital information from you and your doctor. Gene patents slow the pace of medical advance on deadly diseases. And they raise costs exorbitantly: A test for breast cancer that could be done for $1,000 now costs $3,000.

Why? Because the holder of the gene patent can charge whatever he wants, and does. Couldn't somebody make a cheaper test? Sure, but the patent holder blocks any competitor's test. He owns the gene. Nobody else can test for it. In fact, you can't even donate your own breast cancer gene to another scientist without permission. The gene may exist in your body, but it's now private property.

He goes on to describe how access to testing and genetic information has been impeded. This has affected care for some of the sickest and most vulnerable people in our society, the people who have serious and rare genetic diseases. More commonly, patenting the genomes of pathogens such as strains of the flu or the SARS virus have inhibited scientists from doing important research quickly because of the potential legal ramifications of infringing on existing patents.

The fact that naturally occuring elements (like genes) that are shared not only by most humans, but often with many other living things, can be "owned" by one person or institution seems strange on its face and begs review. On principle alone, this is important, but at the moment, it is the normal modus operandus in this country to patent these naturally occurring genetic elements, thus limiting access for both research and application to medical care. However, that may change.

Legislation entitled The Genomic Research and Accessibility Act was introduced into the US House of Representatives to address this issue. The sponsors of this bill are Congressman Xavier Becerra of California and Congressman Dave Weldon of Florida.

New Risk Assessment Tool More Accurately Predicts Women’s Cardiovascular Risk

Web-based application shows patients and doctors where risk can be dramatically reduced

Boston, MA - Using data collected from over 24,000 initially healthy American women, researchers from Brigham and Women's Hospital (BWH) have devised a new Web-based formula called the Reynolds Risk Score, that for the first time more accurately predicts risk of heart attack or stroke among women.

In addition to usual risk factors like cholesterol, blood pressure, and smoking, the new Reynolds Risk Score adds information on two new factors, family history of heart attack prior to age 60 and blood level of C-reactive protein (CRP), a measure of artery inflammation. Using the new risk assessment tool, the researchers found that nearly 50 percent of women in the study who were estimated to be at "intermediate risk" for heart attack or stroke based on current guidelines were in fact at significantly higher or lower risk levels.

For the 10 million American women currently classified at "intermediate risk," use of the Reynolds Risk Score provides doctors and their patients a much clearer picture of who should or should not receive drug therapies such as statins or aspirin, and highlights the critical impact that can be made on heart disease prevention by diet, exercise, and smoking cessation. The findings appear in the February 14, 2007 issue of the Journal of the American Medical Association and are available in a user-friendly format for both physicians and their patients at

"Women as well as men suffer premature heart attacks and stroke, but our standard methods for risk prediction have not been as effective in preventing disease among women" said cardiologist Paul Ridker, director of the Center for Cardiovascular Disease Prevention at BWH and lead author of the study. "One of the problems cardiologists and preventive physicians face is that we often underestimate women's risk for heart disease and stroke. With the new Reynolds Risk Score, we found many women to be at substantially higher risk than anticipated. That's an enormous opportunity for prevention because if physicians can accurately tell a women in her 30's or 40's about true lifetime risk, they've got a much better chance of motivating her to stop smoking, get regular exercise, reduce her blood pressure, and where indicated, start a statin or aspirin regimen."

The Reynolds Risk Score was derived from a study of 24,558 initially healthy women enrolled in the Women's Health Study in 1992 who were followed more than a decade for the occurrence of heart attack, stroke, and other major cardiovascular events. The researchers first evaluated 35 different risk factors to come up with the best possible prediction tool for clinical use and then directly compared the new prediction tool to traditional approaches currently in use. Two new risk factors proved crucial to understanding cardiovascular risk in these women, each representing an important advance in the biology of heart disease. The first was a simple blood test for C-reactive protein (CRP) reflecting inflammation in the artery wall. The second was whether or not a patient's parents had suffered a heart attack before age 60, a measure of genetic risk. "When information on CRP and family history were incorporated into our prediction models, they improved the fit and predicted risk more accurately" said Nancy Cook, the study statistician. "For some women, changes were striking enough to potentially affect treatment decisions or alter behavior" she continued.

"Using the Reynolds Risk Score, we found that many women were correctly re-classified at high risk, while others had their level of risk reduced" Ridker explained. "Correctly classifying risk is crucial for those of us trying to get the right preventive drug to the right patient and to do so as cost-effectively as possible. Preventing heart disease among high-risk women while avoiding drug toxicity in low risk women is a win-win situation for everyone."

Women and their physicians can freely access the Reynolds Risk Score at In addition to providing each woman with an estimate of her risk of suffering a future heart attack, stroke, or other major cardiovascular event over the next 10 years, the Reynolds Risk Score website simultaneously shows each woman what her risk would be if she improved each of her individual risk factors to optimal levels. For young women, risk may appear low over the next 10-years, yet can be very high over a lifetime. The Reynolds Risk Score also allows each woman to calculate risk as she ages, demonstrating the impact that risk reduction early in life can have on future events. The Reynolds Risk Score website provides useful links to prevention programs for women from the National Heart Lung and Blood Institute, the American Heart Association, and the American College of Cardiology.

Development and validation of the Reynolds Risk Score was supported by investigator-initiated grants from the Donald W. Reynolds Foundation, Las Vegas, Nevada. The Women's Health Study was supported by funds from the National Heart Lung and blood Institute, Bethesda, Maryland.
Brigham and Women's Hospital is a 747-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare System, an integrated health care delivery network. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832 and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives, dedication to educating and training health care professionals, and strength in biomedical research. With $370M in funding and more than 500 research scientists, BWH is an acclaimed leader in clinical, basic and epidemiological investigation - including the landmark Nurses Health Study, Physicians Health Studies, and the Women's Health Initiative. For more information about BWH, please visit:

Kaiser Permanente Unveils Groundbreaking Genetic Research Program

Researchers Aim to Reveal the Genetic and Environmental Causes Behind Deadly and Disabling Diseases

Oakland, CA - February 14, 2007--The Kaiser Permanente Northern California Division of Research is launching one of the largest research projects in the United States to examine the genetic and environmental factors that influence common diseases such as heart disease, cancer, diabetes, high blood pressure, Alzheimer’s disease, asthma and many others.

The goal of the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) is to discover which genes and environmental factors—the air we breathe, the water we drink, as well as lifestyles and habits—are linked to specific diseases.

Researchers hope to explain how genes and environmental factors work together to influence the risk of getting a disease or affect its severity or outcome, according to program co-investigators Cathy Schaefer, PhD, director of the RPGEH and a research scientist at the Kaiser Permanente Division of Research in Oakland, and Neil Risch, PhD, director of the UCSF Institute for Human Genetics and an adjunct investigator at Kaiser Permanente. The Research Program will also include studies of genetic and non-genetic factors that affect how people respond to specific medications, including the occurrence of side effects.

Almost all common diseases and health conditions are linked both to genetic and environmental factors, according to the researchers. “Understanding the critical interaction between genes and the environment on health will have an important impact on the way all of us look at health and disease in the future,? said Schaefer. “For instance, our research could help us identify not only what diseases a person may be at risk for, but also identify how to reduce that risk, or how best to treat the disease. This research program provides an exciting opportunity to make significant progress toward improvements in health and medical care.?

Member participation is critical to the success of the RPGEH. With that in mind, Kaiser Permanente is inviting members to participate in a survey that will be the first step in building the research program. Approximately 2 million adult members in Northern California will receive a survey by mail, asking questions about their background, health history, lifestyle and habits, and their family’s medical history. Later, researchers will invite members to give a biological sample in the form of blood or saliva that can be used to obtain genetic information. Before any research involving genetic information can occur, the RPGEH will obtain informed, written consent from Kaiser Permanente members.

By combining the genetic, health, and survey information from hundreds of thousands of members into databases, researchers hope to gain a deeper understanding of what combinations of genes and environmental factors influence the risk of complex diseases.

The success of RPGEH hinges on having a high number of Kaiser Permanente participants, with good representation of all groups in the population. Large groups provide the statistical power that is necessary to detect the subtle and complex relationships between genes, environmental factors and disease. "Because the population we hope to include in this program is so large and diverse, the research can be generalized," explained Schaefer.

With RPGEH, Kaiser Permanente is contributing to public health by taking the work of the human genome project—describing the sequence of genetic information in great detail—to the next step of translating that information into an understanding of how genes influence our health. Kaiser Permanente has a diverse membership and 46 years of research experience, making it uniquely qualified to lead this kind of large-scale, long-term research that could personalize medicine for millions of individuals.

“In the world of medicine today, one way a physician determines a patient’s risk for a serious condition like heart disease is by taking a family history,? said Joe Selby, MD, MPH, director of the Division of Research. “However, the Research Program on Genes, Environment and Health will hopefully give us information that is far more useful and will enable the medical community to be much more precise in pinpointing the causes of disease and tailoring treatment for the individual.?

Cutting edge studies such as the RPGEH that include large numbers of people are not unprecedented. The Framingham Heart Study, The Women’s Health Initiative (WHI) and the Nurses Health Study (NHS) are just a few examples of large-scale research projects that have helped us understand a great deal about prevalent health conditions. Kaiser Permanente's Division of Research is a bellwether in high-profile research that has led to significant health care findings through use of its research database. For example, a Kaiser Permanente/FDA study on the painkiller Vioxx revealed an increased risk of cardiovascular events for those taking the drug.

To ensure that the RPGEH meets the highest scientific standards, as well as addresses issues of potential concern to different communities, the Division of Research has set up both a scientific advisory panel—consisting of non-Kaiser Permanente individuals with relevant scientific and professional credentials—and a community advisory panel with leaders from diverse communities throughout Northern California. These panels will advise and guide all aspects of the Research Program. All data collection and research by the RPGEH has been and will be reviewed and overseen by the Kaiser Permanente Institutional Review Board (IRB) for the Protection of Human Subjects. This federally mandated Board includes physicians, lawyers, and community members who are not involved in the Research Program.

Participation in the RPGEH is completely voluntary. An individual's genetic information will not be used in genetic studies without their written consent. Moreover, as with all studies carried out by the Division of Research, protecting the confidentiality and security of our members' information is our first priority. Kaiser Permanente has a long track record of protecting the security and confidentiality of information provided by research participants. The KP Division of Research maintains separate information and databases from the health plan and members’ medical records. No research data is stored with identifying information. In the database, each participant will be given a unique code that will replace their medical record number, name and other identifying information. The code can only be linked back to identifying information by a small number of Division of Research staff members who must have a special password. The data is for research only.

Studies done by the Division of Research are funded almost entirely with money from outside Kaiser Permanente in the form of federal grants, such as those from the National Institutes of Health, or from other organizations and foundations. Funding for the RPGEH comes from the Wayne and Gladys Valley Foundation, the Ellison Medical Foundation, and Kaiser Permanente's Community Benefit Program. For more information on the Kaiser Permanente Research Program on Genes, Environment and Health, go to

The Kaiser Permanente Division of Research conducts, publishes, and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and the society at large. It seeks to understand the determinants of illness and well-being and to improve the quality and cost-effectiveness of health care. Currently, DOR’s 400-plus staff is working on more than 250 epidemiological and health services research projects.

For more information on Kaiser Permanente research, go to:


February 12, 2007

GINA Notes I: Health Insurance

The Genetic Information Nondiscrimination Act (GINA) is designed to prevent the use of genetic information in the underwriting or issuing of health insurance in individual, group, or medigap type policies. It affects and modifies federal laws that regulate these products, including ERISA, the Public Health Service Act and Title XVIII. In each of these, issuers of insurance are prohibited from health discrimination on the basis of genetic information or genetic services. Health insurance issuers that are regulated by the federal government are not allowed to use either genetic information or information that a person or a person's relatives have sought genetic services in their underwrting decisions.

In this type of legislation, definitions do matter and GINA's definitions are inclusive, but not overly broad.

Genetic information is defined as 1) an individual's genetic tests; 2) the genetic tests of family members of the individual; or 3) the occurrence of a disease or disorder in famiy members of the individual.

Family members are defined as 1) the spouse of an individual; 2) a dependent child of the indiviudla, including a child who us born to or placed for adoptin with the individual; and 3) all other individuals related by blod to the individual or the spouse or child described above.

A genetic test defined as: an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, that detects genotypes, mutaitons, or chromosomal changes. The exceptions to this are: 1) an analysis that does not detect genotypes, mutations or chromosomal changes; or 2) an analysis of proteins or metabolites that is directly related to a manifested disease or disorder, or pathological condition that could reasonably be detected by a health care professional with appropriate training in the field of medicine involved.

This last part hinges on the adjective "manifested". I am not sure exactly what "manifested" might mean and I expect this may be a weakness in the law. Take familial hypercholesterolemia (FH) as an example. The simplest test to screen for FH is serum cholesterol levels and in this case, this test is providing informaton about genotype. However, it is also a manifestation of the pathological conditinon of high cholesterol and, if someone who has this condition, has had a heart attack or some other clinical manifestation of FH, does this mean that they are not protected from discrimination?

I may be overthinking this, but at first glance, this part of the legislation bothers me. If you are reading this differently, I would appreciate your comments. Or, are there any lawyers in the house? I would love to have some thoughts from some sharp legal minds on how this might be interpreted in practice or in the courts.

Free Association is publishing new content

"Free Association" Nature Genetic's blog is publishing again. Today, there are summaries of new research that describes a common variant of the CASP8 gene that is associated with protection from breast cancer and a genome scan that is identifying and characterizing genetic variants that are associated wth cancer risk.

February 6, 2007

Senate version of GINA now up on Thomas

The Senate version of the Genetic Information Nondiscrimination Act is now available. It is designated S. 358 and may be accessed via the Library of Congress' Thomas web portal. At first glance, it looks to be pretty much identical to the House version (H.R. 493).

I am just beginning to my analysis on this legislation. I am planning on posting more on this week.

Genomic Nutritional Profiling: The Ethics of Nutrigenomics

Nutrigenetic and nutrigenomic profiling is getting to be a really hot topic, both because of its potential for improving people's lives and because of its entry into routine use often occurs outside the usual pathways of provider-mediated healthcare. The developing nature of the technology and the lack of professional mediation are just a couple of the reasons that this area has become somewhat controversial, with a broad diversity of opinion on what is acceptable--or not. Come to this program and get an introduction of the issues--scientific, ethical, legal, and social.

Prof. David Castle, PhD (University of Ottawa)

Genomic Nutritional Profiling: The Ethics of Nutrigenomics
Wednesday, February 7, 2007
St. Paul Student Center Theater

This event is being offered by The Joint Degree Program in Law, Health and Life Sciences as part of the 2006-07 Lecture Series on Law, Health, & the Life Sciences.

February 5, 2007

Now I Lay Me Down to Sleep

The St. Paul Pioneer Press, ran a Sunday feature story on a group call Now I Lay Me Down to Sleep. They are a network of professional photographers who volunteer their time and services to parents who are having or have had babies who are stillborn or not expected to live very long in order to make a photographic record of these babies' short lives for their families.

I had not heard of this organization before and am just wondering if any of you have had any experience with them. It seems like they provide an invaluable service to the families they engage with and, in the experience of the one photographer who was profiled in this story, her experience with these families has been life-changing, as well.

An excerpt from Mary Divine's article in the Pioneer Press:

Rick and Carrie Wilson knew their daughter was going to die terribly young, either at birth or shortly thereafter.

And the Wilsons knew they wanted Katie Marie's life — however brief — to be remembered. So they asked photographer Heather Lombardo to join them on their journey of grief and celebration.

Lombardo spent hours with the family the night Katie was born. She photographed Carrie with her hands cradled on her pregnant stomach and Katie when she first nursed. And she made portraits of the family at home before Katie died, two months later, of a rare chromosomal disorder.

The Wilsons treasure every day with Katie. And Lombardo's photos — 971 in all, taken and given at no charge — have brought them joy and peace. 'It's absolutely the best gift that we could have,' Carrie Wilson said. 'Having all that has been a godsend — a saving grace in this whole journey. The memories of Katie mean so much to us.'

February 1, 2007

More on the Genetic Information Nondiscrimination Act

More on the Genetic Information Nondiscrimination Act (GINA) from Rep Louise Slaughter's website. She has doggedly pursued getting this legislation passed for more than a decade. She is one of my heroes.

Money quote:

"This bill is the culmination of a bipartisan effort to prohibit the improper use of genetic information in workforce and insurance decisions," Rep. Slaughter said. "In the 12 years since I first introduced genetic nondiscrimination legislation, the need for it has grown exponentially. Scientific research has advanced so quickly that we cannot afford to wait any longer. This bill will allow us to preserve America's health and protect our scientific edge, all while defending the privacy of our citizens."

"We will never unlock the great promise of the Human Genome Project if Americans are too paranoid to get genetic testing," said Rep. Biggert, a chief sponsor of the legislation in the 109th Congress. "Without the protections offered by H.R. 493, these fears will persist, research at NIH will slow, and Americans will never realize the benefits of gene-based medicines."

"This bill is about our children, our future, and ensuring that Americans cannot be discriminated against in health insurance and employment decisions," said Sharon Terry. "As an advocate and as the Chair of the Coalition for Genetic Fairness, I understand the promise of genetic medicine and am appalled by the experiences of the many individuals and families who have experienced genetic discrimination."

IBM supports the Genetic Information Nondiscrimination Act

As goes Big Blue, so goes the nation? This is very good news. IBM has invested significantly on developing the hardware and software necessary to process and analyze the massive amounts of data generated by omics experiants. They understand what this means and it is good to see them come out in favor of this legislation.

Folic acid reduces risk of cleft lip with or without cleft palate

Like we need another reason to like folic acid? It IS one of nature's panaceas for making just about everything work better. Interestingly, the most striking results were in women who were getting folic acid both from their diet and as a supplement in the very earliest part of their pregnancies.

Take home message from the news release:

After adjusting for smoking and other confounding factors, they found that folic acid supplementation of 400µg or more a day reduced the risk of cleft lip with or without cleft palate by 40%.

Independent of supplements, diets rich in fruits, vegetables, and other high folate containing foods reduced the risk by 25%. The lowest risk of cleft lip was among women with folate rich diets who also took folic acid supplements and multivitamins. Folic acid provided no protection against cleft palate alone, according to the results.

This report is published in the British Medical Journal and is available online.

Allen J Wilcox, Rolv Terje Lie, Kari Solvoll, Jack Taylor, D Robert McConnaughey, Frank Åbyholm, Hallvard Vindenes, Stein Emil Vollset, Christian A Drevon. Folic acid supplements and risk of facial clefts: national population based case-control study BMJ, doi:10.1136/bmj.39079.618287.0B (published 26 January 2007)

The Genetic Information Nondiscrimination Act is back in Congress

The Genetic Nondiscrimination Act has been reintroduced into both Chambers of Congress for the 110th Congress. Last session, this legislation was unanimously passed in the Senate, but did not come to a vote in the House. Many feel that this time, this important legislation has a strong possibility of passing in both Houses of Congress. If it does, President Bush has signalled that he will sign the legislation into law.

In the Senate, the bill is S. 358 and in the House of Representatives, the bill is H.R. 493 The legislation is meant to prohibit discrimination on the basis of genetic information with respect to health insurance and employment.

At this point, both pieces of legislation have supporters from both sides of the aisle. In the House of Representatives, Representatives from Minnesota who are listed as co-sponsors include Betty McCollum, Jim Oberstar, and Jim Ramstad. So far, of the 25 Senators that are co-sponsors of the bill, neither of Minnesota's Senators (Norm Coleman or Amy Klobuchar) have signed on as co-sponsors. To access more information on this legislation, plug in the file numbers into the search on the Thomas web portal.

As of this moment, only the text of the House version is available. A summary of the H.R. 493 is also posted. However, the language of the Senate version will probably be very similar or even identical to what was introduced in the House.

I will be reading this legislation more closely in the next days and giving you my perspectives on this via this blog. I would be very interested in readers' opinions or questions on this issue. It is an area that I have been following for a lot of years, so the prospect of this passing makes me a bit giddy with anticipation. It is way past time for this to happen!

If you are concerned about how genetic information is accessed and used, you need to be aware of this and contribute to the process. Contact your Representatives and let them know how you feel about this. This is very important for your own personal health, the health of your family, and for the health and protection of many of the populations we serve.