Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues.
Disclaimer: Opinions expressed in blog postings may or may not reflect the opinions of Geneforum. In addition, the content provided here is purely informational and not a substitute for advice from your personal physician.
have you ever considered having a gentic test done? How would you get the information you need? How would you deal with the results?
These are some of the questions adults 25 to 40 years old may be asking.
A new initiative from the National Cancer Institute has been launched to "investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions."
Called the Multiplex Initiative, the study will also look at how people who decide to take the tests will interpret and use the results in making their own health care decisions in the future.
The test being used is designed to yield information about 15 different genes that play roles in type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer, and malignant melanoma.
"The Multiplex Initiative will provide insights that will be key to advancing the concept of personalized medicine," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "As genomic technologies are introduced for wider use, researchers and clinicians will need to know how genetic susceptibility tests will be received by patients. This study will be an important first step in understanding how such testing can be practically used in primary care settings."
Researchers at Henry Ford Health System, a major health provider in metropolitan Detroit, are recruiting individuals between the ages of 25 and 40 to volunteer to participate in the study. The participants are being selected through patient lists from Health Alliance Plan, the largest managed care plan in Michigan, owned by Henry Ford Health System and the Henry Ford Medical Group, the health system's group medical practice of more than 900 physicians and scientists. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing.
To protect patient privacy, test results obtained during the Multiplex study will not automatically become a part of participants' medical records. However, participants who want to share their test results with their health care providers may do so.
Although I've chosen "genetic testing" as the topic for this blog entry, none of the new "genes" reported in the latest news have had genetic tests developed for them yet. So, you cannot run out and get tested for these genes yet.
Today, Associated Press medical writer Lauran Neergaard wrote an article, New diabetes risk factors found, that is hitting all the newspapers and online services. The author writes:
Scientists have found clusters of new gene variants that raise the risk of Type 2 diabetes — and how the researchers did it is as important as what they found.
If you enjoy online quizzes to test your knowledge of a subject, you might enjoy today's genetics quiz at About: http://biology.about.com/library/weekly/blmengen1q.htm. It's based on simple Mendelian genetics, where everything follows a clear, unobstructed plan. Now, if you're more interested in what's happening today in genetics, check out my next blog--on the genetics of Type 2 diabetes.
Marie Godfrey, PhD
Yesterday--April 25--was National DNA Day and I missed it entirely. That's what happens when you're trying to do too many things at the same time. If you want to know more about the day and what it means, check out the following website sponsored by the University of Utah (as one example):
While you're there, try out the learning exercises at their Genetics Science Learning Center--they're fun.
Marie Godfrey, PhD
Today, the Genetic Information Nondiscrimination Act (H.R.493) passed the House of Representatives. Representative Slaughter (D-NY) and Representative Biggert (R-IL), GINA’s lead sponsors, spoke to the need for protections against genetic discrimination and thanked the House chairs of the committees of jurisdiction for their work to move the bill. Members of the House from both sides of the aisle stood in support of GINA and called for a favorable vote on the legislation. The bill was passed with a 420-3 vote under the suspension of the rules.
Here's an ACTION ALERT from the Genetic Alliance
Help End Genetic Discrimination!
Ask your representative to vote for Genetic Information Nondiscrimination Act
Today the House of Representatives will consider the Genetic Information Nondiscrimination Act (H.R.493) on the Floor, probably as early as 11 AM! This legislation protects all Americans from discrimination by employers and health insurers based on genetic information.
Today's Philadelphia Enquirer features news of Nancy Wexler, a woman I've admired ever since I saw her story on public television. She is one of nine people being honored this week by the Franklin Institute for achievement in science in technology.
As you would expect from a writer for the Enquirer, Tom Avril starts the story dramatically:
It might seem hard to convince a roomful of strangers to let you gouge a few skin cells from their arms for genetic testing, especially when you are a foreigner in a poor Venezuelan community ravaged by disease, and you speak very bad Spanish.
As promised in the last blog entry, I went to the Cochrane Library online to find out about the study of genetic counseling and women with breast cancer. I found a new source of medical information--specifically testing what the evidence is for a particular conclusion by looking at professional publications indexed by Wiley InterScience. The parent site is similar to the PubMed system many physicians and researchers use to access titles and summaries of publications. There are several ways to look at information, including the edivence-based medicine database.
The big difference: a plain language summary. This summary is supposed to be for those not familiar with medical terminology. I'd be interested in learning whether any of you readers find the information easy to understand.
Here's what I found for the genetic counseling study.
- Cancer genetic risk assessment for individuals at risk of familial breast cancer
- The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, resulting in the creation of genetics clinics for familial cancer. Cancer genetic services can involve extended counselling, specialist screening and genetic testing for mutations. Risk assessment is the first step in the process of providing information and support to patients and their families. Information on evidence-based methods of delivering cancer genetic risk assessment services is however sparse. For this review a systematic search, review and assessment of the literature on the delivery of cancer genetic risk assessment services for individuals concerned with familial breast cancer was undertaken.
- This review included 3 trials (five papers) which covered the process of risk assessment for familial breast cancer. These focused on the psychosocial impact on patients, as well as other outcomes and aspects of service delivery, and provided data on 1251 participants. Due to the limited amount of trials, this review found insufficient evidence to make any firm conclusions about the best way to deliver risk assessment services for individuals concerned about a family history of breast cancer. All three included studies did however demonstrate improvements in psychological wellbeing and a decrease in the levels of cancer worry as a result of the risk assessment service. Although limited, the findings of this review suggest that cancer genetic risk assessment services can help to reduce distress, improve the accuracy of the individual's perceived risk of, and increase knowledge about, breast cancer and genetics. Existing evidence suggests that such services do not cause patients any harm and, in the short-term, can have a positive effect by helping to ease distress and decrease cancer worry. From this review, the health professional delivering the risk assessment did not appear to have a significant impact on these outcomes.
Depending on the web address you use, you will enter the Cochrane Library from different perspectives. I found the following a good place to start:
The United Press International reported yesterday: More women are seeking out genetic services to learn about family breast-cancer risk, and a Welch review found many have less stress and worry. "Many people have spent years worrying about cancer in their family," said review co-author Rachel Iredale of the Institute of Medical Genetics at Cardiff University.
A genetic risk assessment enables people to reach a better understanding of hereditary breast cancer, their own personal risk, and means access to additional services, such as extra mammography screening or genetic testing, is often easier. Most people are satisfied with the service they receive.
The press release concludes by citing the source of the information: three studies of 1,251 women who underwent genetic risk assessment for hereditary breast cancer. All of the studies showed that genetic counseling improved patients' psychological well-being and decreased their levels of anxiety and worry about developing cancer, according to the review in The Cochrane Library.
I've been reading about this study in several other sources and will track it down to see what else the study itself can add. More in another blog entry.
Marie Godfrey, PhD
Every day, each one of us copes with numerous and generally unexpected challenges. Currently, I am trying to live in two different states in homes 750 miles apart. This has made my usual forgetfulness and disorganization more of a handicap than usual. I suspect much of this tendency is in my genes. So, I can't change that, can I?
The companies who sell genetic testing services online use our fears and inclinations to get us to buy something. We might think we are buying security--we'll know what's wrong with our genes so we can . . . Well, what can we do?
I'm not saying that being told we have a BRCA gene mutation is like the challenges I am running into today, but the way I am dealing with these might help others deal with problems that serious. O.K., here are some of the challenges I have dealt with today:
The Senate has once again passed a stem cell bill whose primary function is to allow federal funding of stem cell lines created after August, 2001. The ban was placed by President Bush and has been upheld since then, limiting federally-funded embryonic stem cell research to approximately 24 or fewer stem cell lines.
President Bush is expected to veto the bill.
I recently found a 2005 edition of National Geographic in which the subject of stem cell research was thoroughly discussed--with the usual excellent photographs. I think what surprised me most was that only one item dated the article: Hwang's announcement of producing a stem cell line from adult cells by nuclear transfer had not been made or declared completely false. Other than that, not much seemed to be new.
Internet news stories are boring for a while and then two interesting things can come along the same day. Today, just as I finished completing a survey on nutrigenomic genetic testing--the testing that claims to tell you how to change what you eat and how you treat your body, based on your genetic makeup--I found a slew of stories stating that there is no genetic link for heart disease risk.
The stories are in many places, but most of them read the same, starting as follows:
No genetic link found for heart risk, study says
Tests failed to find mutations that would predict cardiovascular disease
Updated: 12:13 p.m. PT April 11, 2007CHICAGO - Genetic testing failed to find any gene mutations that predict a higher risk of heart disease, a study released on Tuesday said.
Scientists at Yale University worked up the genetic profiles of nearly 1,500 people to examine 85 genes that smaller, earlier studies suggested might confer susceptibility to heart problems.
Last month, the winner of a family history contest in Utah, received his prize: a personal consultation with a family history specialist and genealogist. The story, reported by the company providing the service, is copied below, with permission of the authors, Jim and Mary Petty:
Through the Utah Department of Health’s Chronic Disease Genomics Program, Utahns are encouraged “to know your past to benefit your future”. In the words of the Washington Post (February 26, 2002): “The Family Tree has become the most important genetic test of all. The more you know, the more tools you have to practice preventive medicine.” The Genomics program has promoted the goal “Make Family Health History a Tradition” through a variety of initiatives, publications, and even a contest.
Sixty-six authors and 14 international institutions were involved in the work reported in the March 8th edition of Nature (volume 446, pages 153-158) under the title, "Patterns of Somatic mutation in human cancer genomes." The group found:
...evidence for 'driver' mutations [approximately 120 genes] contributing to the development of the cancers. . . Systematic sequencing of cancer genomes therefore reveals the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated.
While the U.S. legislature debates whether discrimination is occurring in insurability of its citizens, many Canadians are paying higher premiums for critical care insurance even when genetic tests are negative. This report comes from cbc news.
Canada has public health care for ordinary illnesses, with more limited protection for debilitating conditions such as cancer. People can buy additional insurance to cover these potential problems, and insurance in this category is a fast-selling product. It covers such things as strokes, heart attacks and some types of cancer or diabetes.