Page 28 - ARUBA TODAY

A28 SCIENCE
Monday 23 July 2018

Gene tests can provide health clues -- and needless worry

By MALCOLM RITTER code is like a text with 3 bil- in her healthy husband, "a
AP Science Writer lion letters. Some of those lot of stress kind of eased
NEW YORK (AP) — Last year, letters spell words — genes off."
Katie Burns got a phone — that carry out specific And in October, her son
call that shows what can jobs. If a gene has one or was born without any trace
happen in medicine when more letters that aren't the of the disease.
information runs ahead of ones found in the generic So how should a person
knowledge. "spelling" of human DNA, react to a VUS? Genetic
Burns learned that a ge- they are called variants. counselors say it should be
netic test of her fetus had Some variants lead to dis- considered along with the
turned up an abnormality. ease. But each of us carries person's other medical in-
It appeared in a gene that, many variants, and most formation, but not used as
when it fails to work prop- are harmless. You can't the sole reason for a major
erly, causes heart defects, tell their effect just by look- decision like breast remov-
mental disability and oth- ing at them. And just be- al.
er problems. But nobody cause a variant is rare, that That message has not got-
knew whether the specific Kendra Snyder, right, talks with patrons at Checkers Bar & Grill in doesn't mean it's harmful. ten through to some doc-
abnormality detected by Mount Union, Pa., on Monday, July 16, 2018. Scientists do have ways to tors, said Dr. Allison Kurian
the test would cause trou- Associated Press determine if a variant is risky of Stanford University. She
ble. or not, but they often don't recently surveyed surgeons
"I was pretty distraught," ed DNA tests being mar- many thousands of them have enough information about tests that examined
says Burns, a photographer keted by American labs are being reported to pa- to make the call. That's the BRCA1 and BRCA2
in Charlotte, North Caro- to health care providers, tients, said Heidi Rehm of what happened to Katie genes, in which certain mu-
lina. "I had a baby who mostly for single-gene disor- Boston's Massachusetts Burns. tations can greatly increase
was kicking. I could feel ders, with the total growing General Hospital and the She had the genetic test the risk of breast cancer.
him moving inside of me. rapidly. And this year, the Broad Institute in Cam- done because of an un- Many surgeons said they'd
But at the same time I had Pennsylvania-based Geis- bridge, Massachusetts. usual finding on a fetal treat a patient with a VUS
this ache in my chest. What inger health system began The rates vary by disease. ultrasound scan. The VUS the same way as if she had
was his life going to be for offering free genetic test- In seeking genes to explain prompted her genetic a known disease-promot-
him?" ing to its patients as a stan- a patient's hearing loss, for counselor to suggest test- ing mutation.
It took two months to get dard part of its disease pre- example, around half of ing both her and her hus- "That is not a correct rec-
more reliable information, vention efforts, along with tests will find only a VUS, she band to see if they had the ommendation," Kurian said.
and Burns says she wasn't things like mammograms said. A child with symptoms variant. The counselor also "Those two things are differ-
really sure of the answer and cholesterol checks. that suggest developmen- brought up the possibility of ent. ... We need to have
until after she gave birth in Americans are interested tal delay or a related dis- an abortion. expert genetic counseling
October to a healthy boy. in what their genes say order might get a test that "Termination was off the more closely integrated
Her experience is a glimpse about their health. Poll re- examines 200 genes, she table," Burns said. into the care of breast can-
into a surprising paradox sults released Thursday by said. With such a wide net Instead, Burns scoured the cer patients."
of modern-day genet- The Associated Press-NORC cast, the chances of a VUS internet. In a searchable Kendra Snyder, of Newton
ics: Scientists have made Center for Public Affairs Re- are nearly 100 percent, she database of genetic vari- Hamilton, Pennsylvania, re-
huge leaps in rapidly de- search found that 60 per- said. ants called Clinvar, she saw calls being told by her ge-
coding people's DNA, but cent would want to know if That can cause more than that Rehm's laboratory had netic counselor "just to live
they sometimes don't know they carried a variant asso- worry, said Otis Brawley, encountered the variant your normal life" after VUS
what their findings mean. ciated with even an incur- chief medical and scientif- found in her fetus, and clas- results this year. She had
They can even get fooled. able disease. ic officer for the American sified it as a VUS. taken the test because of
That can come to a head But DNA test results can be Cancer Society. He tells of Burns contacted Rehm, a heart condition.
when medical profession- puzzling. Katie Burns' fetus women who got breasts re- who provided some reas- "I was a little upset," she
als have people tested for had what experts call a moved after learning they surance. In the years since said. "I was hoping I'd have
genetic variants that cause "variant of uncertain sig- had a VUS in a gene linked the 2013 classification more conclusive answers
or promote a disease, usu- nificance," or a VUS. Many to breast cancer — only to as VUS, the variant had as to why my heart is like
ally because they show are known: One standard learn years later that further turned up in three mem- this."
symptoms or an illness runs database contains almost research showed the vari- bers of the general public, But upon reflection, she
in their family. The testing 193,000 variants catego- ants were harmless. and Rehm told Burns she said, she realized she
often focuses on relatively rized as a VUS, more than How can this be? How can suspected that either she shouldn't stress over it, be-
rare disorders, caused by a twice the number of listed scientists not know whether or her husband would be cause doing so would re-
single gene. variants known to cause a DNA abnormality is dan- found to have the variant. duce her quality of life.
Medicine is getting into ge- disease. gerous? That would give further evi- As for the VUS finding,
netic testing in a big way. Each variant may be seen To understand that, it helps dence that it's harmless. "it's there, but I'm not re-
One recent estimate found in only one or a handful of to know a bit about DNA. When Burns later learned ally panicking and thinking
nearly 75,000 health-relat- patients. But as a group, In each of us, the genetic that the variant appeared much about it."q