Posts Tagged ‘indications for referral to cancer genetics’
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.
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.
