Case Study in Genetics and Mental Illness
Introduction: Long before the advent of modern sequencing technology, physicians and scientists have been interested in the genetics of mental illness. For decades the results of twin and adoption studies have pointed to a heritable component. Today, researchers can take a genomics approach and compare DNA sequences between people with psychiatric disorders and those without. For example, a study published in March of this year reported a surprising finding: five common yet distinct disorders (autism, major depression, schizophrenia, ADHD, and bipolar disorder) share the same genetic variants at four chromosomal sites. However, the authors of the study agree with the prevailing view that mental illnesses are "multifactorial traits". In other words, most psychiatric disorders are NOT caused
Case Study: Kellie is an 18-year old woman whose mother, Sharon, suffers from severe obsessive-compulsive disorder (OCD). Sharon's day is so overrun by repetitious rituals, such as locking and unlocking the front door, that she rarely leaves the house. Kellie has not yet developed any OCD tendencies. However, when Kellie learns that research has uncovered a link between genetic variations in the SLC1A1 gene on chromosome 9 and OCD, she questions whether she will develop the disorder later in life. Kellie goes to her doctor, Dr. Simpson, to ask about the possibility of genetic testing for the SLC1A1 gene variant. Although Dr. Simpson has access to the technology required for the testing, he has some concerns. He knows that most psychiatric disorders are triggered by both environmental and genetic factors. Any single gene is only partially responsible for causing OCD. Therefore, Dr. Simpson worries that if Kellie learns that she carries the predisposing variant of SLC1A1, the stress of this information will cause OCD to develop when it otherwise may not in the absence of an environmental trigger.
Please take our poll and leave a comment. Discussions about mental health are often more difficult than those regarding other medical issues.
References:
Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. The Lancet 381(9875), 1371-1379.
Image Credit to the National Human Genome Research Institute
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A patient worrying about cause of their disease is understandable. To completely understand the science behind the disease is paradoxical to welfare of a patient with worries.
Medicine in an inexact science , they follow guidelines & protocol combined with experience in any sub-field
e.g psychology .
Successful (or) optimal treatment is about 'response ' of the doctor to the illness of the patient along with cultural or psychological conditions.
I understand why Dr. Simpson feels that a positive test result may trigger OCD-like behavior in Kellie that may not otherwise have developed. I think his hesitation in administering the test is warranted.
However, if Kellie does in fact carry the mutation of the gene that is linked to OCD, there is a good chance she would exhibit that behavior at some point in her life regardless of whether she is tested by Dr. Simpson. I would hope that with the information from the newly available test Kellie and her doctors will be proactive in their monitoring and treatment of OCD so that she does not suffer as severely as her mother.
I think that the possible forensic application of a link between genetics and mental illness is fascinating. Assuming that some sort of causal connection or even mere correlation can be established, will courts allow expert testimony to establish if a criminal defendant is responsible for his/her misconduct?
Such testimony could be admitted along with testimony from psychologists and/or psychiatrists.
People have a right to understand their genetic information. However, these kinds of multifactorial relationships to health conditions are really hard to understand. Doctors and medical scientists don't understand them. Why then would a doctor give patient information that doesn't help diagnose or treat an ALREADY existing condition?
I am not sure the doctor should refuse any request for the test. However, a doctor should make sure there are appropriate state of health advisors available for the patient to carefully interpret any results.
It's really a case by case basis, depending on the current health (mental and otherwise) of the patient.
For this specific patient, what is the true benefit of knowing about one genetic variant?
