and a normal one
Credit: Betty Pace
There may be a simple reason why genetic screening has failed to fulfill the promise of preventing sickle cell disease (SCD).
According to an article published in JAMA, it’s a lack of communication.
We’ve long had the technical capacity to screen individuals for the sickle cell trait (SCT). Yet few individuals of child-bearing age who were born in the US actually know their SCT status.
So they aren’t aware that they might pass SCT or SCD down to their children.
And this may boil down to a lack of communication among healthcare professionals, patients, and family members.
“[P]arents are routinely notified by NBS [newborn screening] programs if their child has SCD, but only 37% are notified if their child has SCT,” said author Barry Zuckerman, MD, of Boston Medical Center in Massachusetts.
Even if parents do receive SCT screening results, we don’t know whether they understand the implications or share them with their child. And counseling or referrals to genetic counsellors are not provided in a standard fashion.
Furthermore, although NBS programs notify primary care physicians of screening results at the time of birth, results may not be readily available during routine clinic visits, and patients may not have the same physician throughout their childhood.
The lack of knowledge regarding SCT status represents a missed opportunity to provide appropriate health and prenatal counseling and testing, according to Dr Zuckerman and his colleagues.
They said that timely knowledge of genetic vulnerability and genetic counseling are necessary for informed decision-making with regard to reproduction. It is important to increase the number of adolescents and young adults who know their SCT status to decrease the number of individuals inheriting SCD.
To increase awareness of SCT status and facilitate informed decision-making about reproductive options, we must do 2 things, according to the authors.
First, the results of positive screens for SCT must be communicated to primary care clinicians, recorded in the patient’s medical record as part of a problem list, and shared with parents and the individual.
And second, we must provide effective communication and information through genetic counseling on reproductive options for those with SCT.
The authors also stressed that schools and community organizations have potentially important roles in communicating the importance of SCT status to adolescents and young adults. And by working together, the healthcare system, schools, and community organizations may be able to improve SCT knowledge and awareness.
