Investigating the Etiology of Treatment-Refractory Depression

Treatment-refractory depression is depression that has not
responded to at least two courses of antidepressants.

In addition to my classwork and rotations, I work as a research assistant with Dr. Lisa Pan in the Department of Psychiatry. Dr. Pan’s research has investigated the etiology of treatment-refractory depression – depression that has not responded to at least two courses of antidepressants. A number

of individuals with treatment-refractory depression have significant family histories of mental health issues. Some of Dr. Pan’s recent work has evaluated patients’ cerebrospinal fluid for molecules involved in the metabolism of neurotransmitters. Discovery of deficiencies in patients has allowed for supplementation of missing metabolites, which has been remarkably successful in improving their depression symptoms. Researchers associated with the study are now performing genetic analyses to determine whether genetic variations are associated with patients’ symptoms. My work with Dr. Pan involves documenting patient pedigrees, investigating genetic analysis findings, writing a case study, and preparing to deliver results to a patient.

Working in research has reinforced how quickly things evolve in genetics. New findings occur every day, and treatments are developed to improve the health of patients. Seeing this aspect of genetics gives me a new appreciation of how the information and treatments we provide patients in clinic were developed. Accepted treatments were once experimental approaches. As additional knowledge about the genetics underlying psychiatric diseases emerges, new therapeutic approaches may emerge.

Connecting genetic factors to treatment-refractory depression
and other psychiatric disorders may help scientists find new
treatments for these illnesses by unlocking another piece of
the puzzle.

Genetic counseling related to psychiatric disorders is a new and growing field. Since psychiatric disorders, such as depression, bipolar disorder, schizophrenia, and autism, are complex, strong genetic associations have been difficult to identify; however, significant strides have been made in determining genetic and environmental contributions to mental health. Family history of psychiatric disorders can increase the likelihood of an individual developing a mental health condition. Certain genes have been found to be associated with some psychiatric disorders. With knowledge about psychiatric disorders and genetics increasing rapidly, development of guidelines about genetic counseling in relation to mental health is important. At the 2017 NSGC conference, I had the opportunity to join a meeting of the Psychiatric Special Interest Group, with other genetic counselors interested in advancing the field of psychiatric genetic counseling. We discussed ways to address family and personal histories of mental illness that come up during genetic counseling sessions as well as specialized clinics for psychiatric genetic counseling.

Being able to work with research finding new connections between depression and genetics and seeing these connections directly applied to help patients find relief has given me insight into current and future needs in the genetic counseling field, and I hope to use this perspective and knowledge to help my future patients!

-- Kaitlin Sullivan