Archive for the ‘Health’ Category
NSGC releases statement on gene patenting
The National Society of Genetic Counselors (NSGC) just released a statement regarding the recent court ruling which invalidates Myriad Genetics’ patent claims.
The National Society of Genetic Counselors (NSGC) supports an individual’s access to medical technology and services. NSGC believes that patent holders granting exclusive licenses on human nucleic acid sequences will hinder the development and cost-effectiveness of genetic testing, particularly when the analysis of multiple genes or the entire genome is necessary to assess the risk or existence of disease.
NSGC supports government policy that encourages open and unfettered access to human nucleic acid sequences to promote the development of personalized medicine services that will benefit the public.
To read the full statement or contact the NSGC, visit here.
To read about the potential implications of this ruling, visit the Genomics Law Report and Genetic Future.
Top 5 (I mean 6) Genetics/Genomics Journalists I Read
The following journalists are typically good and often ahead of the trends in genomics. I don’t always agree with them, but they do their homework, make fact-based arguments and demonstrate a deeper understanding of the subject matter than most.
1. Mark Henderson
Twitter: @markgfh
Mark is the science editor of The Times, and the author of 50 Genetics Ideas You Really Need to Know.
2. Thomas Goetz
Twitter: @tgoetz
Thomas is the executive editor of Wired Magazine, and the author of The Decision Tree blog and book, The Decision Tree: Taking Control of Your Health in the New Era of Personalized Medicine.
3. Emily Singer
Twitter: @emilysinger
Emily is a biotechnology and life science editor for MIT Technology Review.
4. Matthew Herper
Twitter: @matthewherper
Matthew is a senior editor at Forbes.
5. Andrew Pollack
Andrew writes about the business and science of biotechnology for the New York Times.
6. David Ewing Duncan
Twitter: @Duncande
David writes for Fortune, MIT Technology Review, New York Times, Wired, Discover, National Geographic, and is the author of several books including Experimental Man.
Triumph over Diabetes
Zippora Katz is a former soloist ballerina with the New York City Ballet, where she performed for over 15 years. Currently, she is a teacher and repetiteur for the George Balanchine Trust as well as diabetes patient advocate and spokesperson. Zippora has written a book called The Sugarless Plum about her experiences as a athlete living with diabetes and also writes a regular column for the Huffington Post. I recently got the chance to talk with Zippora about diabetes, dancing, children, genetic testing, and her passion for healthy living.
How old were you when you were diagnosed with diabetes?
I was diagnosed when I was 21, but it took me years to get the correct diagnosis. They thought I had type 2 diabetes when in fact I have type 1.
Some dancers struggle with food and/or weight issues due to the demands of the profession. How did your diagnosis affect your relationship with food and your body?
Very early on in my diagnosis, when I thought I could control my diabetes with diet alone, the diagnosis was actually helpful in getting me on track with a really healthy diet. I knew how important what I ate was, so I was very good about sticking to it. But once I found out I had insulin dependent diabetes, I was overwhelmed emotionally. How was I ever going to juggle insulin with my demanding athletic life as a New York City Ballerina? The emotional hopelessness I experienced, and anger at my body, fueled a self-sabotage that directly related to my food choices. I started sneaking foods I had previously limited. But through the years I learned how to accept the diagnosis and how to have compassion for my body, not rage at it for having a problem. The result of that being my ability to eat for health, and to feel at peace with my body and my life.
Does anyone else in your family have diabetes, type 1 or type 2?
No. There is speculation a great Aunt on my father’s side had diabetes, but I’m not sure which type.
March is National Colorectal Cancer Month
March is National Colorectal Cancer Awareness Month. As such, I thought I would take the opportunity to remind people that approximately 15%-20% of all colorectal cancer cases are believed to be hereditary, and about 3% of all cases are believed to caused by one specific hereditary cancer syndrome known as Lynch syndrome.
Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is associated with a predisposition to cancers of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk to develop cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Affected women also have a high risk to develop cancers of the endometrium (lining of the uterus) and ovaries.
First degree relatives (parents, children, sisters, brothers) of people with Lynch syndrome have a 50% chance to also have Lynch syndrome. Second and third degree relatives, such as grandparents, aunts, uncles, cousins, nieces and nephews, are also at increased risk. Once a mutation that causes Lynch syndrome has been identified in an individual, their family members have the option of undergoing genetic testing to determine if they also carry the mutation. Relatives with a Lynch syndrome mutation can lower their overall risk of developing or dying from colorectal cancer by having earlier and more frequent colonoscopies.
Top 5 Genetics/Genomics Blogs
Genomics is a rapidly evolving world of scientific, ethical and logistical facts, myths and issues to be considered.
Top 5 Blogs I Read:
1. Genetic Future
Author: Daniel McArthur
Twitter: @dgmacarthur
Daniel writes “about the genetic and evolutionary basis of human variation, and the companies trying to sell you information about your genome.”
2. Genomics Law Report
GLR Editor: Daniel Vorhaus
Twitter: @genomicslawyer
“The Genomics Law Report focuses on the legal implications of important developments in the fields of genomics and personalized medicine — including key litigation, legislative, regulatory and policymaking activities — in order to facilitate understanding of the complicated and shifting legal landscape governing genomic and personalized medicine commerce and research.”
3. The Genetic Genealogist
Author: Blaine Bettinger
Twitter: @blaine_5
“The Genetic Genealogist examines the intersection of traditional genealogical techniques and modern genetic research. The blog also explores the latest news and developments in the related field of personal genomics. To learn more about me or about genetic genealogy, please explore the site.”
4. The DNA Exchange
Authors: Allie Janson, Jessica Giordano, Kelly Rogel, Laura Hercher and Robert Resta
The DNA Exchange is a “group of genetic counselors with an interest in public discussion of genetics-related issues. This is a place for GCs to express opinions and comment on personal, clinical, and professional issues in genetics through a centralized and public forum. We hope to engage the genetic counseling community as well as other health professionals and stakeholders.”
5. NSGC President’s Blog
Author: Liz Kearney
Twitter: @nsgc_org
“As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to patients and other healthcare professionals. She can also comment on issues related to genetic counselor training and licensure, public policy issues such as oversight and access to genetics services, timely news topics related to genetics, and legislative efforts and successes such as the Genetic Information Non-Discrimination Act (GINA).”
Did I miss any good blogs?
Myriad Genetics Misrepresents Data Says Yale Genetic Counseling Program
In a recent post, the Yale Genetic Counseling Program refutes several statements made by Gregory Critchfield, MD, MS, president of Myriad Genetic Laboratories, Inc. in a recent letter to the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS). The letter was sent in response to comments made by Lisa Schlager at the October 2009 SACGHS meeting in which she expressed her belief that Myriad representatives do not encourage referrals to genetic experts. Lisa Schlager is the Washington DC outreach coordinator for the organization Facing Our Risk of Cancer Empowered (FORCE).
The Yale Genetic Counseling Program does a great job weeding out fact from fiction as it breaks down Critchfield’s letter statement by statement.
Myriad Statement:
Community physicians can capably perform genetic counseling and deliver genetic services to patients in their practice.
Fact:
As evidence supporting this statement, Myriad cites a single study published by Keating et al in 2008. However, Myriad distributed the surveys for this study and included a $20 prepaid cash incentive with each survey. Myriad fails to mention that physicians in this study were frequently assisted by genetic counselors, nurse geneticists, or other counselors in providing genetic counseling. They also fail to mention that physicians who were assisted by these other providers were more likely to provide appropriate counseling (i.e. discuss all six recommended counseling items). Myriad also overlooks the bulk of data from multiple studies indicating that most providers lack the time, knowledge, and/or awareness of pertinent issues to provide adequate genetic counseling.”
For an in depth look at this eloquently executed post, click here.
Playdates Foundation Brings Kids with Special Needs Together
This is the first post in a series profiling non-profit organizations. We want to spread the word about these inspiring groups to help them accomplish their shared goal of helping families affected by genetic disease.
Dennis Crosby is the CEO and Founder of Playdates Foundation, Inc.
What is the Playdates Foundation?
PlayDates Foundation, Inc. is an online based, non-profit organization that deals with socially connecting children with special needs. Our website hosts a directory of parents looking to connect their children with other children to go out on play dates. Our mission is to enrich the social quality of life for all children with special needs.
What inspired you to start the Playdates Foundation?
I have a 12 year old niece with Down syndrome. Over time, I have noticed the growing need for her to socially connect with other children. Her social life consists of school and a once a week ballet class. She has no real friends outside of class and no one to call on if she wanted to go do a simple activity such as watching a movie. I realized that is no life for a child to live, so I started PlayDates with the intention of correcting that problem.
Severe Combined Immunodeficiency (SCID) should be added to universal newborn screening programs
Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.
SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.
Media Returns Focus to Classic Genetic Diseases
Most genetic diseases can be broken down into three main categories:
- Mendelian Disorders (such as Huntington’s disease, cystic fibrosis, Fragile X syndrome and sickle cell anemia)
- Chromosomal Abnormalities (such as Down syndrome, Trisomy 13, Trisomy 18, and translocations)
- Multifactorial Diseases (such as diabetes, heart disease, non-familial Parkinson’s disease and late-onset Alzheimer’s disease)
Traditionally, the genetics community has focused their clinical and research efforts on the “classic” genetic diseases, mendelian disorders and chromosome abnormalities. Collectively, these conditions affect a large percentage of the population, but individually, some of these conditions are considered rare because they affect a small number of people. In contrast, many multifactorial conditions are common and related to much of the cost to our healthcare system. Recent advances in genetic technologies and the subsequent emergence of personal genomics companies, such as 23andMe, Navigenics, deCODEme and Pathway Genomics, have shifted media attention away from the rarer, “classic” genetic diseases and towards the promise of discovering the genetic components of multifactorial disease in order to create more effective treatment and prevention options.
Personal Genomic Company Test Comparisons
SNPs are small variations in a single “letter” of DNA that can be found throughout our entire genetic make-up. Personal genomic companies, such as 23andMe, Navigenics, Pathway Genomics, Gene Essence, and deCODEme, analyze thousands of SNPs at once related to various diseases and traits.
Because a number of individuals have shared their personal risk analyses and genotypes, we know that there are differences between personal genomic companies’ disease risk predictions. These discrepancies are largely due to the absence of accepted standards for selecting disease risk markers.
To easily compare testing options presently available directly to consumers, the following charts highlight the wide variation between SNPs analyzed by these companies. To be complete, Coriell Personalized Medicine Institute, who in contrast tests for very few SNPs, is included in the review comparison.
