Sickle cell trait: Neglected opportunities in the era of genomic medicine

March 6, 2014

(Boston)—While acknowledging the potential of genomics to prevent and treat disease, researchers from Boston Medical Center (BMC) and Boston University School of Medicine (BUSM) believe it is long past due to use current scientific data and technical advances to reduce the burden of sickle cell disease (SCD), one of the most common serious single gene disorders. The work, reported as a Viewpoint in this week's Journal of the American Medical Association (JAMA), highlights the gaps in knowledge and care in terms of SCD and the need to address this issue expeditiously.

The inexpensive identification of the mutated hemoglobin and the technical capacity to screen populations have been known and operative for decades. Sickle Cell Trait (SCT) is estimated to affect 3 million people in the US: approximately 8 percent of African Americans and .5-3 percent of Hispanics. While the screening indications and contexts for life limiting diseases such as cancer, Down syndrome and SCD differ, timely knowledge of genetic vulnerability and genetic counseling are necessary for informed decision making in all screening contexts.

According to the researchers few individuals of child-bearing age born in the United States know their SCT status. "First, parents are routinely notified by NBS (newborn screening) programs if their child has SCD, but only 37 percent are notified if their child has SCT. In addition, for the parents who do receive SCT screening results, it is unknown whether they understand the implications or remember to share them with the affected child during adolescence to inform future reproductive decisions," explained corresponding author Barry Zuckerman, MD, a pediatrician at BMC and a professor of pediatrics at BUSM. In addition, while NBS programs notify listed primary care physicians at the time of birth, results often are not readily available during routine clinic visits, and counseling or referrals to genetic counsellors are not provided in any standard fashion. Furthermore, patients may not have the same physician between birth and adolescence. The lack of knowledge of SCT status information represents a missed opportunity to provide appropriate health and prenatal counseling and testing.

"While the screening indications and contexts for life limiting diseases such as cancer, Down syndrome and SCD differ, timely knowledge of genetic vulnerability and genetic counseling are necessary for informed decision making in all screening contexts. In the case of SCD, similar to thalassemia and Tay-Sachs disease, 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," said Zuckerman.

To increase awareness of SCT status and facilitate informed decision-making about reproductive options, the researchers recommend that two areas be improved in the health care system. First, the results of positive screens for SCT by NBS programs need to be reliably communicated to primary care clinicians, recorded in the patient's medical record as part of a problem list, and shared with parents as well as with the individual. The second area for improvement is to provide effective communication and information through on reproductive options for those with SCT.

The researchers also stress that schools and community organizations have potentially important roles in communicating the importance of SCT status for adolescents and young adults. "By working together, the health care system, schools, and community organizations may be able to improve SCT knowledge and awareness so that informed individuals have increased access to reproductive options," he added.

Explore further: High-dose melphalan and autologous stem cell transplantation increases survival

Related Stories

Cancer preventive services below healthy people targets

March 6, 2014

(HealthDay)—Rates of cancer screening and provider counseling are currently below the Healthy People (HP) 2020 targets, according to a study published Feb. 27 in the U.S. Centers for Disease Control and Prevention's Preventing ...

Recommended for you

New genetic syndrome tied to defects in protein transport

July 28, 2016

An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The mutation disrupts normal protein ...

Chinese team to pioneer first human CRISPR trial

July 22, 2016

(Medical Xpress)—A team of researchers at Sichuan University's West China Hospital has announced plans to begin a clinical trial where cells modified using the CRISPR gene editing technique will be used on human beings ...

New genetic clues into motor neuron disease

July 26, 2016

Researchers at The University of Queensland have contributed to the discovery of three new genes which increase the risk of motor neuron disease (MND), opening the door for targeted treatments.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.