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Study shows disparities in genetic counseling

By Renuka Santhanagopalan, For the Daily
Published September 19, 2012

University researchers published this month a disparity between counseling received by parents with newborns that had the sickle cell trait, a gene that can cause sickle cell anemia, and newborns who were carriers of cystic fibrosis.

The study, published in the Journal of Genetic Counseling, found that 20 percent of parents with newborns carrying the sickle cell trait did not receive genetic counseling, while only 8 percent of parents with newborns carrying the cystic fibrosis gene lacked counseling.

Sickle cell anemia and cystic fibrosis are two recessive genetic disorders, the former common in African Americans and the latter in Caucasians.

Kathryn Moseley, an assistant professor of Pediatrics and Communicable Diseases at the Medical School and a researcher who conducted the study, said there are no medical problems associated with carrying the cystic fibrosis gene, while carriers of the sickle cell trait have risks that must be addressed, such as the possibility of heart stroke or muscle breakdown.

“In certain environmental conditions, carriers could have problems,” Moseley said.

Genetic counseling is recommended for parents of carriers so they are informed about the possible risks of conditions.

Sickle cell anemia is characterized by abnormal hemoglobin in red blood cells, which causes the cells to form a sickle, or crescent shape, and inhibits the delivery of oxygen throughout the body.

Cystic fibrosis is a disease that causes mucus to build up in the lungs and block individuals’ airways and pancreatic ducts leading to digestive problems.

Despite the seriousness of the sickle cell gene’s implications, many parents of newborns carrying the trait do not receive counseling, while parents of newborns with the less threatening cystic fibrosis gene receive counseling more often.

Moseley said this gap in genetic counseling may exist because sickle cell anemia screening has been in place since the 1970s, whereas cystic fibrosis screening is fairly new in comparison.

“My theory is that the biggest issue is that cystic fibrosis is in front of the doctor because it’s newer,” she said.

She added that people generally believe African Americans already know about sickle cell disease, so doctors aren’t referring to them for counseling as often.

Moseley found that there is often a lack of sickle cell counselors available to accept new patients, causing inefficient handling of patients that may need more counseling due to the possible severity of their condition.

While many patients with newborns carrying the sickle cell trait do receive counseling, 20 percent of those patients are only counseled in doctors’ offices.

Moseley added that genetic counselors are needed in these situations to give more long-term guidance to the patients and fill the gaps when doctors may not have the time.

While Moseley is still searching for the reason for why there is a genetic counseling disparity between the two cases, she said it does not seem likely that it is a racial issue.

She added that keeping patients informed is exceedingly important, and doctors need to take an active interest in carriers of the sickle cell trait and cystic fibrosis and ask their patients to seek counseling.