August 2008 - the Parklander

TECHNOLOGY
GENETIC TESTING:
E M E R G I N G T R E N D S
By Jennifer Monroe, MS, CGC
Do you have an increased risk to develop breast cancer?
Colon cancer? Alzheimer’s disease? Is your unborn
baby at risk for a genetic disorder? Are you at risk to
develop diabetes or heart disease? These answers can
be discovered through genetic testing. However,
despite increased availability of genetic testing, many
people worry that abnormal genetic test results will cause
them to lose their health insurance or be discriminated
against.
On May 21, 2008, President Bush signed into law a
measure called the “Genetic Information
Nondiscrimination Act” (GINA). GINA prohibits
employers and health insurers from discriminating
against an individual on the basis of genetic
information, including genetic test results or family
history of a genetic disorder. This will likely increase
utilization of genetic services by individuals who feel
they are at increased risk for a particular condition
based on their medical or family histories.
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In the past few years, a growing number of “Direct to Consumer”
(DTC) advertising campaigns have emerged from genetic testing
companies with the goal of marketing genetic tests directly to
consumers. While the aim is to increase information about the tests and
therefore increase genetic test accessibility, DTC marketing raises
several concerns. First, individuals seeking genetic information directly
from a manufacturer or supplier with limited or no input from a
healthcare provider may lack essential knowledge of the purpose,
benefits and appropriateness of testing. Unlike other blood test results,
one’s DNA cannot be changed with diet, exercise, and other lifestyle
changes and, therefore, the results have life-long meaning. It is also
important for the individual seeking testing to understand the accuracy
and clinical significance of results for themselves and other family
members. Therefore, doctors will often recommend an individual to a
genetic counselor, a health professional with expertise in medical
genetics and counseling, to help him or her make decisions about their
health based on the test results.
Currently, the most common
genetic tests performed include:
• Genetic carrier screening to determine if a couple is at
increased risk to have a child with a particular recessive genetic
disease, for example cystic fibrosis or Tay Sachs disease;
• Gene “chip” (microarray) testing that allows many genetic
tests to be performed simultaneously;
• Pre-implantation genetic diagnosis, in conjunction with in vitro
fertilization, to test embryos for genetic disorders prior
to implantation;
• Prenatal diagnostic testing via chorionic villi sampling or
amniocentesis;
• Newborn screening;
• Genetic testing to estimate the risk of developing adultonset
cancers such as breast, ovarian and colon cancers,
as well as melanoma;
• Presymptomatic testing to predict adult-onset conditions
like Huntington’s disease;
• Genetic testing to confirm a clinical diagnosis;
• Forensic, identity and paternity testing.
In the future, advances in genetic testing will allow doctors to determine
which individuals will respond best to a particular medicine or
treatment, thus improving clinical outcome and reducing unwanted
side-effects. New discoveries in genetics bring promise for better, more
individually-tailored medical treatments, including the possibility of
gene therapy to cure genetic diseases. The possibilities seem endless,
with new discoveries emerging daily.
For more information about genetic testing and genetic counseling, visit
www.genetests.org and www.nsgc.org.
Jennifer Monroe, MS, CGC is a Certified Genetic Counselor.