The individual & family decisions behind testing for genetic
By Laura Beil
Of the 25,000 or so genes Patty Mendez inherited from her
parents, her life turned on just one.
She grew up the youngest of five children in Waterloo, Iowa,
in a household where each member seemed to bask in the company
of the other. She married, assumed an enviable corporate job
and doted on her two dogs. Then came the day in 2002, when
her doctor found a lump in her breast. The malignancy had
reached the diameter of a quarter, and overtaken four lymph
nodes. She was 37.
A fluke, her oncologist said about the tumor. Sure, she was
awfully young, but no other woman in her family ever had a
trace of breast cancer. “I thought I should have eaten
my vegetables,” says Mendez. Her surgeon slid a pamphlet
about genetic testing across the desk, but as she took her
six rounds of chemotherapy, her genes didn’t occupy
Until the phone call, more than three years later, from big
sister Ruth. A mammogram had spied a tumor. Ruth’s doctor
advised genetic testing. The problem seemed greater than broccoli.
Cancer is often the conspiracy of misguided genes and their
surroundings, but some people live disproportionately at the
mercy of their DNA. Genes for cancer susceptibility—regular
genes transformed into outlaws—wind their way through
some family trees, with a 50-50 chance of striking each new
member. Of the known genes, BRCA1 and BRCA2 carry the strongest
risk of hereditary breast and ovarian cancer.
These damaged genes can’t be repaired, but they can
be found. A decade ago, gene-mapping research scientists assumed
that everyone at risk would embrace testing, freely sharing
results with their kin, says Kenneth Offit, MD, chief of the
clinical genetics service at Memorial Sloan-Kettering Cancer
Center in New York. They envisioned genetic testing as empowering
and enlightening, and for the most part, it has been.
But the geneticists forgot something their psychology colleagues
knew well: Nothing hinging on family interaction is ever predictable.
A genetic test can be an emotional glimpse into the past and
future, and results occur amid love, resentment, remorse,
pride and other currencies of family relations. Some members
feel guilty for carrying or not carrying a gene. Some families
are brought together over a shared risk. Others are fractured
Annette Patterson, a genetic counselor at the University
of Texas Southwestern Medical Center at Dallas, says just
about anything can happen among families. Sometimes people
are loathe to contact their relatives at all, while others
are relieved to understand why they and so many relatives
keep ending up in the care of oncologists. The most important
thing for families to appreciate, Patterson and others say,
is the need for good counseling, before and after, about what
the results mean and don’t mean. Good decisions are
born only of good information.
Perhaps the biggest burden falls on the first person affected—the
one who introduces testing into the family. Doctors for Mendez’s
sister Ruth, who was 43 at diagnosis, advised testing immediately
when they saw a hallmark of hereditary cancer: two affected
sisters. “Now you don’t have to think you had
cancer because you didn’t eat your vegetables,”
Ruth tells her sister.
But not everyone suspected to have a genetic mutation should
necessarily have a test. If the results wouldn’t alter
a person’s medical course—for example, if the
gene raises risk of a disease with no reliable screening method
or effective treatment—then the knowledge is of little
benefit. In 2003, the American Society of Clinical Oncology
laid out three terms to be met before health providers offer
genetic testing. They are a personal or family history suggestive
of a genetic susceptibility, a test that can be adequately
interpreted and a result that will aid in diagnosis or medical
Scientists have now identified an alphabet soup of genes,
in addition to the known BRCA genes, that raise the risk of
a handful of cancers (see sidebar). Experts advise testing
for many of these, but not all. “Just because there’s
a genetic test doesn’t mean we should be doing it,”
says Sheila Prindiville, MD, director of the clinical cancer
genetics program at the National Cancer Institute. In that
regard, she and others are concerned about some commercial
Internet sites offering genetic testing services.
Even if they fall into the criteria, some people will reject
testing. One of the most common reasons is the fear of genetic
discrimination against people who test positive—that
employers, insurers and even curious onlookers might see a
walking bull’s-eye for cancer. Yet among the approximately
5,000 people tested at Sloan-Kettering, no one has yet complained
of any social or financial consequences based on their genetic
status, says Dr. Offit.
Sue Friedman of Tampa, who gave up a veterinary practice
to found FORCE: Facing Our Risk of Cancer Empowered, says
that she, too, has not encountered a case of genetic discrimination.
The website for her organization (www.facingourrisk.org) maintains
a vast national database of women with a genetic cancer risk.
“What we see are people who don’t even want their
family members to test because they are so afraid of it,”
That anxiety, experts say, illustrates that some of the deepest
and most complex psychological reactions to a positive test
occur among the family members known as “unaffected
carriers.” Affected carriers have already known cancer.
Healthy carriers, on the other hand, have to navigate in a
kind of demilitarized zone between having cancer and not having
cancer—separated from bonafide survivors, but hardly
unaffected. So Friedman’s group invented another term
for unaffected carriers: previvors.
When she first heard the term, Ilana DeBare of San Francisco
thought she had finally found kindred souls. She chose testing
two years ago, after her mother died of ovarian cancer at
age 56. Being Ashkenazi Jewish, she wanted reassurance that
she had little chance of facing her mother’s killer.
Instead, she got a BRCA2 positive test result.
“You start feeling like you’re walking down the
street with this little black cloud over your head, and it’s
just over you—like in a cartoon,” DeBare says.
In and out of a mental fog for weeks, she told no one except
her husband. She would alert her family, but first the news
had to crystallize in her own mind.
The main idea behind genetic testing is to reduce the risk
of cancer in carriers, and save non-carriers from unnecessary
stress and medical procedures. Some means of risk reduction
are straightforward, such as heightened screening through
mammography or colorectal exams. Other measures are more complicated
and go beyond simple medical risk. Some women at increased
risk of breast cancer because of a BRCA mutation will have
their ovaries and breasts removed. This was DeBare’s
ultimate choice. But decisions are rooted in each woman’s
emotional, mental and social context.
“You’re being told you have up to an 85 percent
lifetime risk of breast cancer. How do women deal with accepting
that information?” says Dr. Prindiville. “Some
women want to do absolutely everything they can and have their
breasts removed. Other women can’t imagine undergoing
a procedure that’s going to alter their appearance.”
A 2004 study in the journal Cancer Epidemiology Biomarkers
and Prevention demonstrated the variability among healthy
carriers with BRCA1 or BRCA2 mutations. Consider prophylactic
mastectomy: No members of a mostly Mormon group chose the
option, compared with more than half of women in a Dutch study
Genetic counselors help people understand that a gene doesn’t
mean certain doom, but it does bring a certain level of risk.
And not carrying a gene doesn’t mean that a person will
never get cancer. Even major surgery won’t completely
wipe out the risk since remnants of tissue can be left behind,
but the odds are drastically cut.
Counselors also help families communicate, and though test
results are delivered on an individual basis, seeing members
together for the initial counseling can be helpful. Some family
members break the news only after they have results. And they
can do it in creative ways. Patterson says one lawyer drew
up a memorandum to his family and another person printed fliers
for a family reunion. But since most families today are separated
by geography, they are left to confer over the telephone.
Patty Mendez’s sister Ruth consulted her family before
her blood was drawn last summer. The evening Ruth’s
twin sister Rita hung up the phone, she instinctively lay
across the bed and gave herself a breast exam. A chill set
over her as her fingers touched a lump. Rita would soon learn
she had advanced cancer in both breasts. Not a month after
her first-ever mammogram, she lay on an operating table, undergoing
a double mastectomy.
Genetic tests on the sisters would find BRCA2 mutations.
The gene was probably passed silently through the fathers
in the family, until it reached a generation of women. Though
she didn’t know about the gene soon enough to spare
herself chemotherapy, Rita is nonetheless grateful to know.
“Knowledge is power,” she says. It may yet save
her young daughter.
Now, the carriers of one generation must address the next.
When and how to break the news to children is as individual
as each boy and girl. Ilana DeBare has already told her daughter,
who is 12, of the errant family gene. She has faith that by
the time her daughter reaches adulthood, medical science will
have more to offer.
As the era of genetic testing matures, and more cancer genes
revealed, experts will continue to grapple with new issues
that few, if anyone, ever anticipated. Among them: Do healthcare
providers have a duty to warn family members if the initial
patient can’t or won’t share results? What are
the ethical considerations when couples undergoing in vitro
fertilization want embryos screened (see sidebar) for adult
hereditary cancer genes? These dilemmas are, in some ways,
the welcome cost of progress. A decade ago, gene hunters imagined
genetic testing would save lives, offer reassurance and spare
unnecessary harm. It is doing just that.
Reprinted with permission from CURE: Cancer Updates, Research,
& Education. CURE provides the latest in cancer information
for patients and their caregivers free of charge. To sign
up for CURE, go to www.curetoday.com.