Archive for the ‘Cancer Genetics’ Category
One Family’s Journey with Fanconi Anemia
In today’s Washington Post, Liza Mundy, writes about Laurie Strongin and her efforts to help other families by keeping the memory of her son alive. Laurie’s son, Henry, passed away in 2002 from fanconi anemia, a genetic disease characterized by physical abnormalities, bone marrow failure and an increased risk to develop cancer.
In October 1995, Laurie and her husband, Allen Goldberg, became parents to a son, Henry. In addition to being adorable, their firstborn was afflicted with a disease called Fanconi anemia. Sometime in early childhood, Laurie and Allen were told, Henry would suffer bone marrow failure and die. They were offered a shard of hope for his survival: a genetic test that might enable them to conceive another child who could provide a life-saving bone marrow transplant.
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.
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.
Top Ten Conditions of 2009
It’s the end of the year, and it seems everyone is doing a top ten list. Time magazine even has a Top 10 Everything of 2009 – from animals to politics to business. At the end of AccessDNA’s first full year on the Internet, I thought it fitting to do our own Top Ten of 2009.
Top Ten Trafficked Conditions of 2009
- Chromosome Abnormalities
- Ashkenazi Jewish Diseases
- Celiac Disease
- Alzheimer’s Disease
- Autoimmune Thyroid Diseases (Hashimoto’s Thyroiditis; Graves’ Disease)
- Hematological Cancers (Leukemia; Lymphoma)
- Hemochromatosis
- Breast Cancer
- Amniotic Band Syndrome
- Amyotrophic Lateral Sclerosis (ALS)
The AccessDNA team wishes everyone a happy and healthy holiday season!
Family History Missing from USPSTF Breast Cancer Screening Guidelines
Contrary to guidelines established by the American Cancer Society and other health organizations, this week, the U.S. Preventive Services Task Force (USPSTF) recommended against routine mammography in women aged 40 to 49 years. According to the statement, “the decision to start regular, biennial screening mammography before the age of 50 years should be an individual one and take patient context into account, including the patient’s values regarding specific benefits and harms.”
The USPSTF also recommends mammography every 2 years for women aged 50 to 74 years and does not provide a recommendation for women aged 75 or older. Of note, the USPTF does state that this recommendation only applies to “women aged 40 or older who are not at increased risk by virtue of a known genetic mutation or history of chest radiation.”
There are many debatable issues with these recommendations, but most troubling to me is the assumption that to have an increased risk of developing familial breast cancer, a genetic mutation must be known. As a genetic counselor, I know many women and men who have an increased risk of developing cancer based on their personal and family histories who have either chosen not to pursue genetic testing or have had unidentifiable mutations.
