TechNews | Tuesday, October 15, 2013

 

Genetic counselor speaks at biology colloquium

Travon Cooman
COPY EDITOR

Genetic Counseling At the Forefront
of Today’s Medicine’ was the topic Sara
Cherny, a Genetic Counselor, presented to
the Biology Colloquium students and some
faculty on September 30th. Cherny, who works
at the Central DuPage Hospital, a private
hospital which is part of the Cadence Health
System pursued her undergraduate studies at
Washington University, St. Louis where she
majored in Biology and minored in Psychology.
She graduated from the University of Minnesota
with her Master’s of Science degree in Cellular
and Molecular Biology where she focused on
Genetic Counseling.

One summer during her High School,
Cherny was browsing through a course book
while seated in one of the administrative
offices at Brandeis University, Boston when she
accidentally encountered Genetic Counseling.
Her desire to become a Marine Biologist was
displaced by Genetics where she would no
longer be studying whales but serving as an
advocate and counselor to patients.

Cherny enjoys meeting people daily
and being able to have an impact on their lives.
She expressed that her career has molded her
in many aspects, especially as a leader. Unlike
many persons who continue their jobs at home
when the work day is over, she is delighted that
her home is mostly a haven for relaxation and

not for a continuation of her daily work tasks.
Cherny describes herselfas someone who enjoys
diversity, being engaged, an opportunist and an
optimistic person.

Genetic Counseling involves helping
people understand genetic information that
is going to affect their life and health care.
This includes educating patients about genetic
concepts, interpretation of family and medical
history, and serving as a counselor.

She currently works with Prenatal
Genetic Counseling, where she advises and
educates couples who are planning to have
children about the screening and diagnostic
process; Pediatric and Adult Genetics where she
advises patients with symptoms; and Cardiology,
she enjoys most. Other subspecialties include
Cancer and laboratory Counseling but more is
emerging as the field is developing.

As a Genetic Counselor, in her
patient facing role Cherny identifies whether
the patient is at risk of genetic complications,
she interprets their medical history after
analyzing the inheritance patterns she observes
and suggests ways the patient can be helped.
Although licensed, she is limited in terms of the
treatment she can administer to her patients and
sometimes has to refer them to other specialists.
This aspect of her career shows that no one
career is more important than the other; rather,
they all work in synchrony.

Though challenging, Cherny counsels
distraught patients that she cannot withhold test

results from due to her professional guidelines
and ethics. In her Inward (Medical Community)
Facing Role, she advises Physicians who can
sometimes be reluctant and rigid in their
thoughts about treating patients with genetic
disorders.

A common genetic disorder, Down
syndrome, which affects babies, was mentioned.
By conducting tests, it can sometimes be
known whether the baby is going to be born
with this disorder, but the mother’s care during
her prenatal period can also influence this
possibility. It can be a demanding task for
nurses as well as the Genetic Counselor to
comfort parents whose baby is affected by Down
syndrome.

Another genetic disease, Marfan
syndrome, a disease which many people thought
affected Abraham Lincoln, is a genetic disease
of the connective tissues. Patients with this
disease tend to have an error in the way fibrillin
is made. Sufferers have symptoms in their eyes,
skin, joints and heart and commonly suffer from
an aneurysm, which is the abnormal widening
of the artery due to weakness in the wall of the
blood vessel. This is a life threatening disease.

Microarray technology is one of
the developed technologies that is currently
being used to assist Genetic counselors in their
diagnoses. A DNA microarray is a collection
of microscopic DNA spots attached to a solid
surface. It is used to measure the expression
levels of large numbers of genes simultaneously

or to genotype multiple regions of a genome.

After doing a microarray of the
entire genome at once, the results are used to
explain to the patient the possibility and risk of
them developing a particular Genetic Disease.
Cell- free Fetal DNA testing, which involves
analysis of freely circulating fetal DNA in a
pregnant woman’s bloodstream is a non-invasive
method used for prenatal diagnoses. Another
technology commonly used, Next Generation
Sequencing (NGS), is a relatively fast and cheap
technique.

Measures are being taken to treat
babies at risk of genetic diseases by taking a
blood sample from their heel 24 hours after
they are born and analyzing it. This sample is
screened for over 50 diseases in some states
and less in others. It is important that such
analyses be done because it can help prevent
life threatening conditions and help to treat
any conditions they have at birth. Treatment
may include dietary changes, especially for
people who have pheylketonuria, a genetic
disorder where the body is unable to metabolize
phenylalanine to tyrosine, which could lead to
mental retardation, among other problems and
even death.

Despite the effort that Genetic
Counselors put into their occupation, it is
rewarding and comforting for them to know
that they console people, advocate for them and
advise them to the best of their knowledge and
understanding of their field.