Being Black in the Rare Disease Community

In our five-part series on Making Black Lives Matter In Health Care, we seek to uncover facts and share insights on the racial disparities impacting health, with a particular focus on the role of genetics and genomics. By bringing light to these issues, we hope to be a part of the solution to address these inequities and improve health outcomes for all.

On Feb. 28 we celebrate Rare Disease Day. Rare Disease Day is an annual event, led by the National Organization for Rare Disorders (NORD) and other international platforms to promote health equity for individuals with rare medical conditions. In light of Rare Disease Day, we want to take the opportunity to talk about one rare disease, sickle cell disease (SCD), that disproportionately affects the Black community, and highlight some of the disparities and opportunities for future discovery within this condition.

Sickle cell disease (SCD) is a recessive genetic disorder, which means that people with SCD must have two copies of the sickle cell variant (called HbS) to be affected, inheriting one copy from each parent. People with one copy of the sickle cell variant have sickle cell trait (SCT). People with SCD have many serious medical issues including chronic pain, stroke and sudden onsets of “sickle cell crisis”, where their misshapen blood cells build up in the body’s blood vessels, blocking blood flow and depriving oxygen to different body parts. As a result, people with SCD often have to be treated for pain and die at younger than average ages.

On May 15, 2021, The New York Times published an article that drew gasps of outrage and dismay in the genetics community. The article, “How a Genetic Trait in Black People Can Give the Police Cover”, discusses law enforcement’s abhorrent misuse of genetic information, describing instances where SCT has been used to justify police brutality and deaths of Black people in custody.

People with SCT can have complications such as kidney disease, blood clots or other exertion-related injury that can often be mitigated with preventative measures. However, they do not have sickle cell crisis or red blood sickling, which were listed as a contributing factor to death in several medical examiner files cited in the article. It is also particularly important to note that approximately 1 in 14 Black Americans has SCT.

In addition to the individual who was the focus of the article, the writers state, “The New York Times has found at least 46 other instances over the past 25 years in which medical examiners, law enforcement officials or defenders of accused officers pointed to the trait as a cause or major factor in deaths of Black people in custody.” When reviewing the records, they found that “19 deaths involved restraints that could hinder breathing, 5 were initially ruled homicides, 21 involved stun guns or pepper spray, 2 involved bites from police dogs” (from their Twitter summary of the article). Roger A. Mitchell Jr., M.D., the former chief medical examiner for the District of Columbia and now chairman of pathology at the Howard University College of Medicine, stated clearly, “You can’t say, ‘Well, he’s fragile.’ No, that becomes a homicide.”

While this specific issue may not be a concern in every rare disease, it highlights that genetics and genetic conditions can be, and are, abused. Black rare disease patients can encounter many additional barriers to getting a diagnosis, being treated and finding advocacy and support within the rare disease community. These barriers include:

Facing racially based health care biases, despite having a diagnosis of a rare disease

Research initiatives that aren’t developed or funded for Black patients

  • Many publications have discovered that government funding is substantially disproportionate for genetic conditions affecting predominantly Black people than that of genetic conditions that more commonly affect white individuals, particularly one condition called cystic fibrosis.
  • Additionally, there are 1.8 times as many PubMed publications for cystic fibrosis than there are for sickle cell disease, despite similar disease prevalence.

While these barriers can seem (and sometimes are) insurmountable to patients and families, there is optimism for new diseases and a new focus on rare disease in Black communities. Let's talk about some of the promising insights related to sickle cell disease.

  • Federally funded surveillance programs have emerged to capture the lack of centers treating individuals with SCD. Shifting the focus from emergency care during an attack to treating a chronic condition has proven effective in reducing the number of ER visits for individuals with SCD, as well as allowing more children with SCD to survive into adulthood.
  • SCD can be cured by a procedure called a hematopoietic stem cell transplant, but this option is often limited due to the lower number of available donors and post-donation risks. One oral medication, hydroxyurea (also called hydroxycarbamide), is effective in reducing pain levels in individuals with SCD as well as limiting the intensity of attacks. This treatment is almost exclusively discussed at centers specific to treating SCD and not widely available for all patients. Additionally, it is most effective if initiated at a young age, as it changes the structure of the blood cells.
  • An exciting prospect for a treatment for sickle cell disease, called CRISPR (clustered regularly interspaced short palindromic repeats), is now well into clinical trials and has been successful in treating patients with sickle cell disease in Europe, the United States and Canada. CRISPR technology works by taking cells from the bone marrow (affected body part for an individual with SCD) and editing the genes inside those cells so that they go on to create fetal hemoglobin, or the same hemoglobin that's used to supply a fetus with blood from its mother during development. These modified cells are then placed back into the bone marrow and go on to continue to produce this fetal hemoglobin at high levels to counteract the deficiency of hemoglobin function in a person who has SCD. The first patient who received CRISPR treatment, Victoria Gray, went through this process in early 2020 and has not had a sickle cell crisis since her initial treatment.

Check out additional resources from Genome Medical and other organizations below. When pursuing genetic testing, it is important to consider all lenses and potential harms, but also acknowledge the research and potential good.

If you are someone who is seeking genetic testing, your genetic counselor should speak with you about the Genetic Information Nondiscrimination Act (GINA). GINA is the federal law put in place in 2008 establishing that health insurance companies and most employers cannot discriminate against you based on the findings of a genetic test. However, this law does not extend to life insurance, long-term care or disability insurance.

Rare Disease Resources

Read the first three installments of this blog series: Making Black Lives Matter In Health Care: First in a Five-Part Series; Racism in Pregnancy and Childbearing: A Path to Equal Reproductive Rights; and Racism in Cancer: Gaps in Screening, Diagnosis and Management.

Learn more about Genome Medical’s commitment to being a Force for Good and how we are taking action, speaking out and serving as agents for change to actively dismantle social injustice, systemic racism and inequality.

Follow us on Twitter @GenomeMed to get the latest updates on the series. 

Topics: blog, force for good, BLM

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