Posts Tagged ‘genetic disease’
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.
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.
It takes “Extraordinary Measures” to promote Pompe Disease awareness
Sometimes, it takes a blockbuster movie like Extraordinary Measures, in theaters now, to increase public awareness of a rare and neglected genetic disease. The movie, which stars Brendan Fraser, Keri Russell and Harrison Ford, is inspired by the story of John and Aileen Crowley, who have two children with Pompe disease. In the 1990’s, John Crowley collaborated with a scientist named William Canfield in an ongoing effort to develop treatment for Pompe disease.
Pompe disease (also known as Glycogen Storage Disease Type II) affects an estimated 1 in 40,000 people in the United States and is caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Pompe disease is caused by mutations in a gene called GAA and is inherited in an autosomal recessive manner, which means that two mutated gene copies, one from each parent, are necessary to cause the disease.
Charles Darwin Posthumously Diagnosed with Genetic Vomiting Disorder
Throughout Darwin’s adult life, the author of “The Origin of Species” was affected with a chronic illness characterized by episodes of nausea and vomiting, stomach and skin problems, and lethargy often associated with headache, visual disturbances, and heart palpitations.
Darwin’s medical symptoms have long been a mystery to historians. While some believed Darwin to be a hypochondriac, others have suggested toxic poisoning as the root of his ailments. Now an associate professor at Monash Univerity in Melbourne, John Hayman, suggests in the December issue of the British Medical Journal, that Darwin, the man made famous for “survival of the fittest,” was himself affected with a genetic disorder called cyclic vomiting syndrome.
