Case Study Mental Health

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By Sandra Gadow and Laura Rivard

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 by simple single gene mutations. Instead, it is likely that a number of malfunctioning genes each contribute a little to the risk of mental illness. Additionally, environmental factors such as prenatal drug exposure, high-stress, and physical abuse add to the risk. Therefore, the benefit of genetic screening for psychiatric disorders remains unclear given present technology.

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.


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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