Often new techniques that have not passed through normal regulatory and approval processes — and thus remain unproven — are used for therapy.
A new paper by a multidisciplinary team of researchers led by a geneticist and psychiatrist explains both the tremendous power and the current limitations of “precision medicine.”
In the paper, Gholson J. Lyon, M.D., Ph.D., and collaborators report on their recruitment and treatment of a single patient with severe psychiatric illness.
The man, identified as a 37-year-old U.S. military veteran, suffered from a form of obsessive-compulsive disorder (OCD) that rendered him completely disabled — profoundly compulsive and anxious, occasionally paranoid, and unable to hold a job or form meaningful relationships.
Over the past three years, the team successfully treated the man with an experimental form of electrical brain stimulation, called deep-brain stimulation (DBS).
To date, DBS has been used most frequently to lessen symptoms in people with advanced Parkinson’s disease and also on an experimental basis to help lift otherwise untreatable, severe depression.
Worldwide, only around 100 other people with OCD have been reported to have received DBS treatment on a trial basis.
This was the first such instance, however, in which an individual with such severe mental illness, being treated with DBS, also consented to and received whole-genome sequencing, and rigorous post-sequencing analysis of the results, accompanied by genetic counseling.
The results, which appear online in the journal PeerJ, show that the patient was greatly helped by DBS.
Over the treatment period, symptoms associated with OCD diminished to the point that the individual was able to “regain a quality of life that he had not previously experienced in over 15 years,” Dr. Lyon and colleagues report.
As the electrical stimulation of his brain via DBS was optimized over time (this involved gradually increasing the voltage used in electrical stimulation), he was able to participate in regular exercise, work as a volunteer, and eventually meet someone and get married.
The researchers noted that several times during the treatment, when power from the battery that drives the DBS signals was either drained or not activated by the patient, symptoms of severe OCD returned over the course of 12-24 hours and rapidly became debilitating.
Whole-genome sequencing, meantime, revealed that the patient carries at least three gene variants, or alleles, that have been associated in other studies with neuropsychiatric illness.
Researchers conclude that collection of genetic data from a detailed study of particular individuals can improve future care.
They further note: “The genomic data we gathered would have been more helpful if obtained much earlier in the patient’s medical course, as it could have provided guidance on which medications to avoid or to provide in increased doses.”
Source: Cold Spring Harbor Laboratory