This article originally appeared in Star Chronicle, a newsletter
published for the Children's Medical Center.
Regardless of whether the patient is a mother with weeks to go before her
baby enters the world or a teenager trying to overcome mysterious developmental
issues, learning the reason for a genetic disorder can offer possible solutions
for physicians and peace of mind for families.
According to Beverly Hay, MD, chief of genetics, "Genetics can play an
important role in medical care. For example, it is highly effective in thwarting
some medical issues. Required newborn screenings can detect many rare disorders
to allow for treatment to begin before problems arise." Testing can also be done
on those who are predisposed to develop various diseases, such as cancer.
Oftentimes, screenings are done in conjunction with other specialties, such
as orthopedics, dermatology, gastroenterology, developmental/behavioral
pediatrics and obstetrics. Some cases are very medically involved, so the team
lessens the burden of frequent appointments by going to other specialty clinics
to see patients.
The work of the Genetics Clinic does not stop once a diagnosis is made.
Continuing to follow the patient and providing ongoing consultations is useful
to referring physicians. It is beneficial for some patients to be retested or
checked periodically, as new information about the patient and new technologies
allow for improved diagnostic capabilities.
In genetics, both negative and positive results have rewards. A negative test
can create a tremendous sense of relief and may eliminate the need for frequent
checkups and tests. A positive result can relieve uncertainty and creates an
excellent opportunity for counseling and interventions to reduce risk.