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.
Weekly Twitter Digest for March 12, 2010
- @Progeria We have information available on the genetics and inheritance of progeria here: http://bit.ly/9pFf0X. Hope it is helpful! in reply to Progeria #
- RT @Progeria: Watch @DrOz March 8 about #Progeria with Dr. Gordon and the Halko family! Find your local listing http://bit.ly/9pFf0X #
- March is hemophilia awareness month! For more info on genetics and inheritance of hemophilia: http://bit.ly/bz0SzD #
- @ctfightsMS If you are interested in the genetics and inheritance of MS, we have information here: http://bit.ly/bhEXZN in reply to ctfightsMS #
- @momscrazyworld We have info available on the genetics and inheritance of MS, here: http://bit.ly/bhEXZN. Hope it is helpful! in reply to momscrazyworld #
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?
Weekly Twitter Digest for March 5, 2010
- @NathanMurphy_ We have information on Factor V Leiden here: http://bit.ly/b6NmZE in reply to NathanMurphy_ #
- @Dysautonomia If you are interested in the genetics and inheritance of dysautonomia, we have information here: http://bit.ly/9DDsNW in reply to Dysautonomia #
- @dysauto_lady If you are interested in the genetics and inheritance of dysautonomia, we have information here: http://bit.ly/9DDsNW in reply to dysauto_lady #
- Tomorrow is International Rare Disease Day http://bit.ly/d4g8QA #
- @peterpassoli If you are interested in the genetics and inheritance of celiac disease, we have information: http://bit.ly/9zbfeO in reply to peterpassoli #
- @MisterMcCeliac Hi! We have created a page on celiac disease here: http://bit.ly/9zbfeO in reply to MisterMcCeliac #
- @Jefferson_Adams We have more information on the genetics of celiac disease available here: http://bit.ly/9zbfeO in reply to Jefferson_Adams #
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.
Weekly Twitter Digest for February 26, 2010
- RT @eLobbyistIL: HB4974 *Update* Provides that “genetic counseling” can include genetic testing…. http://bit.ly/809sqB #
- RT @XXYYProject: One of the best tools for success a parent of an XXYY boy has is Early Interventions…. http://bit.ly/bQo8cz #
- RT @ChildrensTmrFdn: Breakthrough #Neurofibromatosis Type 2 (#NF2) research published in top med journal Cell: http://bit.ly/aVW3qO #
- RT @Berci: Study Reveals How Genes Interact With Environment To Cause Disease (not that surprising) http://ff.im/-gcFGz #
- @dgmacarthur thanks daniel! in reply to dgmacarthur #
- RT @GlobalGenes: RT #raredisease at every hour!!! read a blog about #MSUD http://ow.ly/1aksc // more info here: http://bit.ly/avIUVc #
- RT @paulafasciano: thanks for the RT #
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.
Considering the Politics of DNA
Among other things, my five months working at AccessDNA have been a crash course in the rapidly evolving world of genetics (Thank you, Jordanna!). During this time I’ve learned that genetic research and clinical trials are helping us better understand the underlying biology of disease, which promises new approaches to treatment and, for some diseases, may one day lead to prevention. I’ve learned how pharmacogenomics promises to reduce the >100,000 deaths to adverse drug reactions in the US each year, as well as patient suffering and healthcare expenditures now incurred through the largely trial and error process of identifying effective drugs and dosage.
I’ve also learned that absent context and understanding, genetic data may lead to misinformation, misunderstanding, misjudgment or misbehavior. In fact, I’ve learned there are a range of scientific, ethical and logistical issues to be considered; and that there are many more questions than answers. But today I learned there is another issue to be considered: the politics of DNA.
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.
