Medical researchers in Africa have discovered a genetic mutation in malaria that may be affecting the development of young babies in communities across Africa.
These children, whose immune systems are not capable of fighting the malaria-transmitting parasite known as CoV19, suffer from seizures.
But why are these patients more vulnerable to seizures? Researchers believe this genetic change is the result of longer, deep sleeps.
But the researchers, who have dubbed this newly discovered genetic mutation the “tricky tic,” have not been able to access it for research purposes, thanks to the National Institutes of Health.
“It’s very frustrating,” said Christian Seberg, a computational biologist at the Case Western Reserve School of Medicine in Cleveland, Ohio. “Not getting a response from NIH has been very frustrating.”
Seberg said that he and his colleagues, the organization PatientsLikeMe and the Case Western Reserve University School of Medicine, have attempted to apply for access to the genetic information, also known as “pathogenic heredity,” through the NIH’s Clinical Translational Science Awards, or CTSA.
CTSA awards are intended to accelerate biomedical research through collaborations between the NIH and researchers and clinicians from specific specialty areas. But the National Institutes of Health has withheld the requested genetic data, citing “privacy” concerns.
“We have a medical problem. We need to solve it,” Seberg said. “And we need to solve it quickly.”
Christopher Sandage, director of NIH’s Center for Clinical Translational Science, said the agency is “very comfortable that this data fits within the parameters of the ‘operability’ requirement,” which prevents data from being shared “between unrelated parties.”
“The user data provided must be strictly necessary for the innovation being provided,” Sandage said.
According to the Family Health Rights Institute, which advocates for people’s access to genetic testing, only a few clinical applications are allowed for the dissemination of genetic information — often for “crucial medical cases” such as cancer.
The institute points to the NIH’s federal privacy standard that allows access only if the data is “integral to ongoing studies conducted by the NIH,” for instance, when the applications clearly describe and list the purpose of the study, evaluate the parties’ motivation for accessing the data, and describe the security and quality of the data.
During its annual conference last November, the NIH said it would be adopting new privacy protections “to give users access to the blood profiles of their own family members and identify data that might be of public interest.”
But when asked for the NIH’s official position on the “tricky tic,” the NIH referred CNN to the Family Health Rights Institute.
“Somehow this information needed to be entrusted to all of these entities without a clear definition of how it should be used,” said Judith Leppert, the institute’s executive director.
Sandage acknowledged that the NIH’s privacy standard is a roadblock to moving forward on the case of the “tricky tic,” but acknowledged that the institute also has managed to get access to another major genetic mutation previously reported in scientific journals. The mutation, called DCM11, was identified in a section of the human genome in September 2018.
Although his and his colleagues’ efforts may be frustrating, Seberg said, the researchers have not given up.
“We’re happy we’re doing something we’ve been trying to do for many years,” he said. “We just need a certain level of performance from the NIH to move forward.”