Patient experiences highlight the importance of genetics experts

The field of cancer genetics has expanded dramatically within the last ten years.  In response to this, several prominent organizations, including the National Comprehensive Cancer Network (NCCN), have highlighted the need for pre- and post-test genetic counseling for hereditary cancer syndrome testing.  But who will perform this counseling for these patients?  Pressure has been placed on the primary care physicians and non-genetics specialists to provide genetic testing and counseling services for their patients.  However, providers are often uncomfortable with this, and don’t have time to pursue additional training or incorporate detailed genetics conversations into their daily practice. Read More

Beyond BRCA: Cowden Syndrome Clinical Vignette

The patient presented for genetic counseling due to a personal history of breast cancer.  The patient was interested in genetic testing in order to determine her daughters’ cancer risks. Read More

The Search for Breast Cancer Genes

For the past 20 years, Mary-Claire King, PhD, and her team at the University of Washington in Seattle, have been studying the genetics of inherited breast and ovarian cancer. Over 2000 lineages with multiple cases of breast and/or ovarian cancer are being analyzed for pathologic changes in five different genes. Read More

New Law Eliminates Expenses for Genetic Counseling Patients

Women at Risk for Breast or Ovarian Cancer Encouraged to Access Preventive Services - An important change implemented through the Affordable Care Act (ACA) may save valuable healthcare dollars for millions of Americans in the future.  The change is adding genetic counseling for women at risk for hereditary breast and/or ovarian cancer (HBOC) as a preventive service.  This means that new health insurance plans or insurance policies beginning on or after September 23, 2010 must cover genetic counseling for HBOC without charging members for co-payments or co-insurance or unmet deductibles when genetic counseling is provided by a network provider. Read More

Criteria for Referral to Genetic Counseling for Breast Cancer Risk

• Patient has a personal or family history of a first or second degree relative* with:
  • Breast cancer diagnosed at age 50 or younger
  • More than one breast cancer diagnosis (i.e. multiple primaries or bilateral breast cancer diagnosed at any age)
  • Ovarian cancer diagnosed at any age
  • Breast and ovarian cancer diagnosed in a single individual at any age
  • Male breast cancer diagnosed at any age
  • Eastern European (Ashkenazi) Jewish ancestry with any history of breast, ovarian or pancreatic cancer diagnosed at any age

• Patient has more than one relative on the same side of the family with any of the following cancers:
  • Breast cancer
  • Ovarian cancer
  • Pancreatic cancer

• Patient has a blood relative with a genetic mutation known to increase breast cancer risk, such as BRCA1/2 or PTEN

*First-degree relatives are parents, siblings, children.  Second-degree relatives are grandparents, aunts/uncles, half-siblings, and grandchildren.