Archive for the ‘Medical Genetic Testing’ Category
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.
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.
MD calls for widespread recognition of genetic counselors
In Dr. Bruce Beuhler’s latest post on his blog Human Genome and Clinical Diagnosis: The Yin and the Yang, he calls for the long overdue recognition of genetic counselors as valuable members of the healthcare team.
As Dr. Beuhler accurately points out:
“Many states do not license Genetic Counselors, and therefore insurers refuse to pay for services or assign codes for genetic counseling. The lack of reimbursement for genetic counseling services has limited placement of Board Certified counselors in private practices of Medicine. Presently a significant number of Genetic Counselors are in Academic practices, but are excluded from professional fee plans and faculty positions partly due to lack of recognition through licensure.”
Currently, there are only 6 states that have active licensure rules and regulations in place, while another 6 are currently writing rules and regulations for already passed licensure legislation. Although, there are several more states taking efforts to introduce licensure legislation, this struggle is far from over and widespread lobbying by genetic counselors and other allied health professionals is still needed.
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.
What is AccessDNA?
What is AccessDNA?
We are often asked why we founded AccessDNA and how we hope to help people. As a genetic counselor, I often get calls and emails from people located around the country looking for information about their genetic disease or that of a loved one. They may find my name in a directory at the National Society of Genetic Counselors website or they may find our website by doing a Google search and send me an email. But, either way, they usually reach out because they are having a hard time finding any relevant information about their genetic disease or finding a genetic counselor in their local area since there are so few of us practicing in the United States.
We believe access to credible information and genetic services is critical for individuals and their loved ones when faced with a genetic condition. Access to genetic counseling is especially important because genetic counselors have specialized training in assessing an individual’s risk to develop or pass on a disease or abnormality. We are also trained in the medical aspects of the disease, such as symptoms and characteristics, disease management and treatment, as well as the psychological implications of disease on an individual or family.
AccessDNA was founded to help people get guidance and support in this emerging and promising area of medicine. In an era where our knowledge of the genetics of both rare and common diseases, such as diabetes and heart disease, is rapidly advancing, and tests are being developed daily, everyone can use a little help understanding what this means for themselves and their family.
Coping with Mental Illness During the Holidays
Many people find the holidays to be stressful because of the social, personal and financial responsibilities and obligations they often feel. This stress can be especially problematic for people with mental illness as it can trigger symptoms.
Although the causes of mental illness are largely unknown, they are believed to be multifactorial, which means genetic, lifestyle and environmental factors can contribute to the disorder. Some types of mental illness have a larger genetic component than others. For example, studies have demonstrated that when at least one person in a family has schizophrenia, the risk to close relatives to also develop schizophrenia is higher than the general population risk of 1%.
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.
Holiday Time is Family (History) Time
The holidays are wonderful time to get together with family members to celebrate, give thanks and reconnect. This holiday season take the time to gather and share information about your family’s medical history, as it can help improve prevention and screening of diseases for all family members.
It is most important to talk to your first degree relatives, which include your parents, brothers and sisters, and children. Your second degree relatives are also important, which include your grandparents, uncles and aunts, nieces and nephews, and half-siblings. Information on third degree relatives, such as cousins, great-uncles and great-aunts, can also be helpful.
Here are some tips for collecting a family medical history:
