Limited Racial Data Curbs Diagnosis, Treatment of Genetic Conditions

Researchers from the Johns Hopkins Medicine Hereditary Hemorrhagic (HHT) Center concluded that limited racial and ethnic data likely contributes to inaccurate diagnoses and treatment of rare genetic disorders in minority patients.

Caused by mutations in five genes, HHT is a condition discovered in the late 1800s at Johns Hopkins Hospital and has yet to be fully understood, according to the press release. However, experts are conducting research to better understand where the disease comes from, how to diagnose it, and how to treat it.

Found in approximately one in 5,000 people, HHT consists of blood vessel malformations in the nose and gastrointestinal systems. Previous research indicates that a faster diagnosis of HHT makes a drastic difference in patient outcomes, allowing for more effective treatment.

However, in a recent study, Johns Hopkins researchers addressed the lack of racial and ethnic data and how it may influence patient outcomes. Published in the Orphanet Journal of Rare Diseases, the study consisted of a review of 79 studies, of which four were US-based.

The four studies published between 2014 and 2019 provided information regarding bevacizumab, a drug that treats HHT and some cancers.

After collecting applicable data from the four studies, researchers found that patient race and ethnicity information was missing. Researchers marked this as an issue because the omission of this data could lead to false information regarding the outcomes of bevacizumab.

“The study started with the intention of wanting to better explore the benefit of bevacizumab to see how it helps our patients at the HHT Center,” said study first author Panagis Galiatsatos, MD, associate director of the HHT Clinic and assistant professor of medicine in the Johns Hopkins University School of Medicine, in a press release. “We started to wonder if we were looking at indications of inequitable healthcare both in treating and diagnosing HHT in non-Caucasian individuals."

The omission of the data is likely due to implicit bias, according to the researchers.

The study authors concluded that treating all HHT patients is necessary, and if people of color are underrepresented in research, HHT cases may be underreported. Thus, the collection of all essential data, including racial and ethnic information, is required.

Various studies have shared information on how patient care can differ among different races, highlighting the importance of including this type of data in research.

For example, a study published in April found that Black and Hispanic patients are less likely to use telehealth, mainly due to the digital divide. This could result in minority groups being shut out of the benefits of the care modality.

Another study, also published in April, found that among asthma patients, Black children were less likely than White and Latino children to receive care from community health centers. This study displays the prevalence of health disparities in asthma care.