tests save lives. Discovering diseases before they become more
serious can mean the difference between life and death. But
many Americans say they donít have time to see a doctor,
live too far from a medical facility or are so uncomfortable
with examinations that they avoid tests altogether.
challenges have created a demand for home-based medical tests.
The market is exploding as businesses bet that consumers
prefer the convenience and privacy of home testing.
to industry sales estimates, a major categoryógenetic health
tests sold directly to consumers (DTC) ó amounted to $99
million globally in 2017, with an annual average growth rate
of 25.6 percent.
tests can be purchased online or at a pharmacy. A few require
a doctorís prescription, but all are administered by the
patient at home. In addition to genetic tests that identify
health risks, some detect or monitor existing conditions, like
high blood sugar and cholesterol, colon cancer, sexually
transmitted diseases and urinary tract infections. Tests vary
in price; some are covered by insurance.
learning in 2008 that she was conceived with a sperm donor,
Ann Melinger of New York City realized she didnít know half
of her medical history. "It raised a lot of questions
about my genetic makeup," she says.
years later, when Melinger heard about 23andMe, a genetics
testing company that offers do-it-yourself kits, she thought
it would be an easy way to learn more about her biological dad
and any potential health risks. 23andMe offers two kits that
test a saliva sample to provide information about the userís
ancestry ($99) or both ancestry and some genetic health risks
($199). Samples are tested in a Clinical Laboratory
Improvement Amendment (CLIA) lab, a designation that signifies
the lab meets federal quality standards.
received her test results a few weeks after submitting her
sample. They were positive for the BRCA1 mutation, indicating
an increased risk for breast and ovarian cancer. "It was
pretty upsetting," she says. She immediately consulted
medical specialists, including a genetic counselor to confirm
the results and explain her risks in detail, and surgeons to
discuss possible prophylactic operations and breast
who was 36 at the time and had already had two children, opted
for the surgeries to reduce her risk and give her peace of
mind. She says it was difficult but she is glad she took the
test. "For me, it was really potentially life-saving
information. Because I donít have a family history, I would
not have been on the lookout for this."
health tests are regulated by the FDA, which provides a
database of approved tests on its website. This March, the FDA
approved the test Melinger took in 2013, which identifies
three mutations of the BRCA1 and BRCA2 genes that increase the
risk of breast and ovarian cancers. It does not test for all
variations, which number in the thousands.
companies offer home-based genetics tests, and more are coming
every day. One, called CellMax Life, also tests saliva samples
in a CLIA lab. It currently offers two kits. One aims to
identify 25 hereditary cancers by looking for mutations in 98
genes. Another, which focuses on breast cancer, tests not only
for the BRCA1 and BRCA2 mutations, but also 13 other genes
associated with the disease.
for home genetic tests vary by company and product, but most
charge between $100 and $250 per series.
Frone, a genetics counselor at the National Cancer Institute,
thinks providing consumers with more tools for assessing their
health can be beneficial. "Not everyone is great at going
to the doctor," she says, and home-based tests provide
another way to get useful information.
Frone urges consumers to exercise caution and do their
homework before buying. Her advice: Look for a company with a
CLIA lab to ensure it handles samples properly and gets the
most accurate results. Find out if your insurance will cover
the costs if you donít want to pay out of pocket. And ask if
the company shares your data with any third parties. Privacy
"is a concern," Frone says.
testsí accuracy and detail continue to improve, but for now,
Frone tells users to take their results with a grain of salt.
For one thing, scientists may not yet know the significance of
a particular mutation, leaving consumers in the dark about
what to do. The concern, she says, is that consumers
"walk away with just that small piece of
information," not knowing how it fits into the larger
picture of their risks or what steps to take next.
should always follow up with a physician to confirm results
and explain their significance. "You should never make
medical management decisions" based on home tests alone,
Mayo of Parma, Ohio, says home testing saved her life. When
she refused to get a colonoscopy (an invasive examination of
the large intestine for cancer and other diseases) because of
the preparation, her doctor offered an alternative: a test she
could take at home called Cologuard. Users collect a stool
sample, which is then tested for blood and any microscopic DNA
fragments shed by a tumor or pre-cancerous lesion. It requires
a doctorís prescription and costs $649, which some insurance
says taking the test was easy. She mailed her sample and
received the results two weeks later. They were positive.
"I was horrified," she says. "I completely, 100
percent expected a negative result."
instructed to see a gastroenterologist who recommended a
colonoscopy ó the standard procedure following a positive
colonoscopy revealed two, large pre-cancerous lesions, which
the doctor removed. She says the doctor told her afterward:
"You really dodged a bullet."
illustrates a general lesson. Patients have many good options
for screening. But "at the end of the day," says Dr.
Blase Polite, associate professor of medicine at the
University of Chicago, "the best test is the one that youíre
actually going to get."