The Genes That Bind

Parents decide if and when to share genetic risk with a child.

CHARLOTTE HUFF
PUBLISHED: 1:00 AM, MON JUNE 7, 2010
Talk about this article with other patients, caregivers, and advocates in the General Discussions CURE discussion group.
For Sara Reveles-Pellegrini, one of four sisters, the fingerprint of cancer has left its imprint on her family tree and her memories, long before she learned of a gene called BRCA.

In the late 1990s, the family rallied around Pellegrini’s two older sisters, Rebecca and Rachel, both diagnosed with breast cancer within a year of each other. By Pellegrini’s wedding in 2000, Rebecca was quite ill, and within a few months of death. Rachel continued to battle the malignancy for years.

So Pellegrini had already developed a plan before she underwent testing in 2005 for the BRCA mutation, a gene alteration that increases a woman’s risk of breast and ovarian cancers. “Seeing how aggressive the cancer was with my sisters, I knew that I wanted to remove body parts.” She was 40 years old with a house filled with children, two boys and two girls, ages 4 and younger. Two of the toddlers played on the floor while the genetic counselor explained her results: positive for a BRCA1 mutation.

For the next three years, Pellegrini underwent some 30 surgeries, including the removal of her uterus, ovaries, fallopian tubes, and both breasts. Infection and breast reconstruction complications sent her back to the operating room again and again. Through it all, Pellegrini and her husband talked to their children about her proactive surgical decisions and the family’s history of breast cancer, which also took Rachel’s life in 2007. 

Even so, Pellegrini was startled one morning last year, as she curled her older daughter’s hair for a school play, when 8-year-old Antonia asked about testing for breast cancer. (She had seen a TV commercial about genetic testing.) Could she get tested as a teenager? “I was surprised and amazed and almost a little heartbroken,” Pellegrini says.

A few recent studies indicate that today’s parents err on the side of disclosure. According to data presented at the American Society of Clinical Oncology meeting last spring, 63 percent of mothers shared their BRCA results with their children—ages 8 to 21—within a month of learning them. “Families and kids are more exposed to genetics, now more than ever,” says Beth Peshkin, CGC, a study co-author and senior genetic counselor at Georgetown University’s Lombardi Comprehensive Cancer Center in Washington, D.C.

Another recent study, focused on mutations associated with a hereditary colorectal cancer condition called Lynch syndrome, sometimes referred to as hereditary nonpolyposis colorectal cancer (HNPCC), also identified a high rate of disclosure. Nearly all—98 percent of participants—told at least one first-degree relative, according to the 2008 study in the journal Clinical Gastroenterology and Hepatology. Nearly 90 percent of those with children shared their results; most of the remaining participants planned to once their children were older.

Genetic counselors advise parents to weigh not only their child’s age and relative maturity in discussing familial genetic patterns but also the immediate relevance for that child. For example, if the parent’s genetic mutation is linked to Lynch syndrome, parents have a lot more leeway since colonoscopy screening is not typically recommended until early adulthood, says Amie Blanco, CGC, a genetic counselor at the Gastrointestinal Cancer Prevention Program at University of California, San Francisco.

Talk about this article with other patients, caregivers, and advocates in the General Discussions CURE discussion group.
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