Genetic Counseling

Teresa is a 45-year-old female recently diagnosed with lobular breast cancer. She has 1 brother, aged 42 years, and 3 children, a 14-yearold son, a 12-year-old daughter, and a 10-year-old daughter. Her father is 65 years of age and has 2 sisters, aged 55 and 62, both of whom have children, and none are reported to have cancer. Her paternal grandparents died in their 80s, and the stated cause was “old age.” Teresa’s mother was reported to have had breast cancer in her late 40s and died from an “abdominal cancer” in her 50s. She had zero siblings.

Sarah is a 59-year-old female referred by her OB/GYN provider for genetic counseling and cancer risk assessment. She has never had a diagnosis of cancer, colonic polyps, or benign tumors. Additionally, she has never undergone any risk-reducing surgeries, and no family members have undergone genetic testing. When making her appointment, she expresses concern about her risk of pancreatic cancer because 2 of her brothers died of it (per medical records adenocarcinoma of the pancreas). What else would you want to know? 

Fear of genetic discrimination is often a stated barrier to referral to genetic counseling services and to willingness to undergo genetic testing.1,2 As a result, when the Genetic Information Nondiscrimination Act (GINA) was signed almost 4 years ago by President George W. Bush, many felt that this would be the panacea for individuals concerned about discrimination. GINA was the first federal legislation providing protections against genetic discrimination by health insurers and employers.

You may or may not have heard the name Kathleen Maxian, but it is likely you have encountered women like her in your practice without knowing it. Kathleen has been featured in several news stories lately, including in the New York Times and on CNN. Her sister, Eileen Kelly, was diagnosed with breast cancer at age 40 and underwent testing for BRCA1 and BRCA2 (BRCA1/2) gene mutations. She was found to be negative. Two years later, Kathleen was diagnosed with ovarian cancer.

Genetic counseling as a profession began in 1969 with the establishment of the first Master’slevel graduate program in genetic counseling. As a process, however, genetic counseling has evolved over a longer period of time.

The US Food and Drug Administration (FDA) has approved Inform Dual ISH (Ventana Medical Systems), a genetic test that allows for measurement of the number of copies of the HER2 gene in tumor tissue. This method of identification of women with breast cancer who are HER2-positive pinpoints who is, and who is not, a candidate for Herceptin (trastuzumab).


Multiple professional and societal guidelines emphasize the importance of genetic counseling and testing for individuals at risk for hereditary breast cancer.1,2 For a woman newly diagnosed with breast cancer, information gained from genetic counseling and testing can directly impact her surgical management and treatment plan. Of the syndromes known to have an elevated risk of breast cancer, hereditary breast and ovarian cancer (HBOC) is the most common. HBOC is associated with mutations in the BRCA1 and BRCA2 genes.

CHICAGO—Gene-expression profiling, combined with a novel chemoradiation regimen, may predict pathologic complete response in patients with esophageal cancer, according to new data presented at the 46th annual meeting in specific cancer populations. of the American Society of Clinical Oncology. New studies presented at this meeting highlighted several new “genetic fingerprinting” techniques that may improve and guide chemo therapy.

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