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Personalizing Genetic Testing Decision

Guilt and privacy concerns come to the forefront when patients with breast cancer are confronted with decisions about testing for gene mutations

Despite the remarkable advances in breast cancer genetic screening technology and precision with which today's tests can pinpoint an inherited gene mutation, many patients look at the clinician suggesting genetic screening as Public Enemy #1.

For some, it's one more overwhelming facet of the already devastating cancer nightmare. Others can't process the idea of more medical appointments, fear the information will come with hefty bills next month or problems securing insurance or employment down the line. For many, the idea of having to tell their daughter or other female relatives that they could have passed down the cancer gene is literally a conversation worse than death.

Not every patient with breast cancer is necessarily a candidate for genetic testing. The BRCA gene test is offered only to people who are likely to have an inherited mutation - which is based on personal or family history - or who have specific types of breast cancer. The p53 gene mutation is linked with a 90% increased risk of developing breast cancer before age 50, so is only performed on younger patients. Similarly, the PTEN gene is tested in women younger than 70. More genetic tests targeting patients with breast cancer are being introduced at a steady pace.

Money Matters
As testing possibilities expand beyond the traditional BRCA1 and BRCA2 gene mutations, the once-expensive tests are dropping in price. The list price for the BRCA gene evaluation was approximately $4,000 until a couple years ago when a Supreme Court ruling against the company monopolizing BRCA testing opened the playing field and sent prices plummeting. Today, BRCA1 and BRCA2 testing is included in many states' Medicare offerings.

But every patient's financial situation is different, especially with medical bills already mounting.

"Most insurance companies now cover genetic testing for breast cancer," said Tara Gehring, BSN, RN, OCN, University of Chicago Medicine's Cancer Risk Clinic. "But some patients think it's just an add-on and don't even want to meet with a genetic counselor."

If cost is a concern, the oncology team can connect the patient with financial assistance programs from one of the leading genetic testing companies.

Other times, clinicians can point to opportunities for discounts. For instance, if a mutation is identified, testing of other family members for the identified mutation is approximately $500. For Ashkenazi Jewish individuals, testing is more straightforward, and typically costs $500-600.

Dreaded Dialogues
Usually, the decision whether or not to pursue genetic testing is more emotional than economic.

"Psychological stress, depression and anxiety are all common to patients with breast cancer," said Gehring. "Genetic testing can bring up feelings of guilt or cause tension in families."

At Cancer Treatment Centers of America's Midwest Regional Cancer Center (Midwestern), Kathleen Boehnlein, BSN, RN, CBCN, arms her patients with information.

"We believe in giving patients the facts so they can talk to their families about what needs to be done," she explained. "If a patient is BRCA-positive, her daughter is too, so we might suggest the daughter have her ovaries removed by 35. This might determine her thoughts on children by that time. We might suggest starting mammograms at 25. We give them the facts and tell them how they'll benefit."

Though Boehnlein doesn't offer a script for the original awkward family conversation, University of Chicago Medicine offers patients a letter template to communicate the information to families, lest they neglect to mention something important.

Boehnlein also stresses the testing's sustainability. "Even if you test negative for the gene, the company keeps your blood and can re-run the test in the future. If they later find a gene they didn't know about and you fit into the testing category, they'll run it and send us your results."

At both facilities, patients at the end of life still participated in genetic testing in order to pass results down to family members or take part in a research study.

Sometimes, the results can have a dramatic impact on treatment decisions and testing early in the disease course pays off. "For patients who test positive for BRCA1 or BRCA2, the recommendation is a double mastectomy," Boehnlein said. "We wouldn't want to do a single mastectomy initially, only to find the patient is BRCA positive and then needs a mastectomy on the other side. This saves money and pain."

Privacy Concerns
Both nurses said a significant number of patients worry about confidentiality. In 2008, The Genetic Information Nondiscrimination Act (GINA) prohibited employers or health insurance companies from categorizing people based on genetic health information. While it offers a great deal more protection than prior to 2008, it's not a catch-all. For instance, some genetic counselors advise patients to buy long-term care insurance before undergoing testing.

"People are still concerned about their employment and the results will force companies to find a loophole to let them go," Boehnlein noted. "They're worried about future insurance coverage, especially if they're self-insured. We tell them about GINA and our HIPPA guidelines. It's no guarantee but there are safeguard in place."

Robin Hocevar is on staff at ADVANCE. Contact

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