Sickle cell disease is a group of inherited blood disorders that primarily affects populations of Black or African American descent. The most severe form of SCD is HbSS, or sickle cell anemia. People who have this type of SCD inherit two sickle cell (“S”) genes, one from each parent, whereas people who have sickle cell trait (SCT) inherit one “S'' gene from one parent and one healthy gene (“A”) from the other parent. The potential for SCT or SCD can be examined in two manners. Genetic screening usually requires a blood sample, and presents the likelihood of a chromosomal condition in the pregnancy, but it is not diagnostic. Genetic testing is performed either as chorionic villus sampling (CVS) or amniocentesis and is diagnostic for chromosomal disorders. Placental tissue or amniotic fluid is taken, respectively, and the fetus’ chromosomes are analyzed.
According to the CDC (2020), SCD occurs in 1 in every 365 Black and African American births, and 1 per 16,300 Hispanic-American births (1). SCT occurs in 1 in every 13 Black or African American births. In addition to long-term health complications, including acute chest syndrome, stroke, infection, and organ failure, SCD is estimated to have an annual cost per patient ranging from $18,859, between ages 0-9, to peak costs of $43,586, for ages 20-29 (2). The decline in annual costs with increasing age may be related to increasing complications leading to morbidity and mortality.
SCD is also a historically underfunded orphan disease, in comparison to other orphan diseases, such as Cystic Fibrosis, which affects half the number of people, comparatively, in the United States (3). SCD has fewer comprehensive health care centers and specialized providers. Despite SCD newborn screens being implemented in 2006, SCD patients have decreased counseling and prophylactic treatments compared to other chronic diseases, increasing the risk of cognitive complications and death in sickle cell patients. Inequalities in treatment are also linked to 60% of SCD patients using Medicare and Medicaid for insurance, limiting access to specialized care, decreased use of primary care providers and increased emergency department visits, and stigmas surrounding pain relief in patients with sickle cell pain crises. Though there are still limited SCD treatments and research remains underfunded in comparison to Cystic Fibrosis, there have been recent efforts to identify cures for sickle cell disease via genetic therapies, and The Cure Sickle Cell Initiative was formed by the National Heart, Lung, and Blood Institute in 2017 to accelerate the identification of these genetic-based cures for SCD (4).
Within the Ashkenazi American and Canadian Jewish population, the incidence of Tay Sachs Disease (TSD) has been reduced by 90% (5). This reduction in TSD cases has, in large part, been due to extensive prenatal screening, education and counseling. While this attempt to eliminate TSD provides numerous ethical, privacy, and communication considerations, few diseases have been voluntarily eliminated as successfully as TSD. Until now, modern genetic screening and testing, as well as education, has not been as extensively researched and offered to minority populations, including Black and African American patients at risk for SCD (6).
Additionally, the perceived burden of SCD may affect prenatal genetic testing and screening choices. In a study performed in Cameroon, the majority of parents with children suffering from SCD would choose to abort the fetus if it was found to be affected. However, these may not reflect the views of parents in industrialized countries, where access to healthcare has a relatively reasonable prognosis and quality of life. In a United States study that conducted focus groups for adults living with SCD or SCT, it was found that reproductive decisions were largely based on previous experiences of suffering and the severity associated with the disease (7). However, these decisions were complicated by desires to have children and faith in modern treatments that increase longevity. Additionally, for some, attitudes towards genetic testing, screening and abortion, were influenced by religious and/or personal moral judgement, values and preferences. The general beliefs of the adults in the study was that knowing one's trait status is important and trait status should be discussed with partners to prevent transmission. However, the participants acknowledged the difficulty of sharing one's SCT status with a partner, and that testing resistance was further compounded by partners' fear of the pain associated with phlebotomy, and convincing partners of the need to test. In similar studies, African American women have been shown to believe that SCD is severe enough to warrant screening, there is benefit for SCT testing, and that barriers to screening are low. However, there was low perception of personal susceptibility to having children that carry the SCT or SCD.
Disparities in genetic testing are further compounded since African Americans, Latinos and non-Hispanic Whites have been shown to have differences in knowledge about genetic testing and types of health insurance, and significant concerns about the misuse of genetic material and mistrust in physicians and the medical system (8). In regards to SCD and SCT, this is not unfounded. The National Sickle Cell Anemia Control Act of 1972 was an attempt to increase healthcare for those with SCT. Instead, it resulted in job and insurance discrimination for these patients (9). This example further highlights the need for proper and ethical communication and education regarding SCD and potential benefits of genetic testing and screening.
Choices regarding prenatal diagnosis of SCD and termination are also complicated. According to the American Society of Hematology, the disease manifests variably and there is no prenatal prediction of severity, with patients in industrialized countries living, on average, to greater than 40 years (10). Additionally, there are variable beliefs among Black and African American communities about abortion related to education, income, religiousness, and location demographics (11). However, it was found that overall Blacks and African Americans have a lower degree of support for abortion than Whites. In the most recent data about “The State of Abortion and Contraception Attitudes in All 50 States,” the majority of African Americans generally support abortion as a contraceptive method while Hispanic Americans are slightly more opposed to abortion (12).
The goal of this research is to investigate current educational, as well as genetic testing and screening practices surrounding SCD in prenatal populations. Alongside previously identified barriers discussed in the literature, this research will help identify barriers to knowledge and testing, and determine potential areas for healthcare providers to counsel and educate patients about SCD, reproductive decisions, and care, to decrease inequalities in care for SCD patients.