Risk counselling for family members in bipolar disorder and schizophrenia

In bipolar disorder (BD) and schizophrenia (SZ) rare and de novo chromosomal microdeletions and microduplications (CNVs) have strong effects on risk. For de novo CNVs, the risk of BD or SZ is 10% and for deletions of the q11 region on chromosome 22, the risk of either of these disorders is 77%. A not-insignificant minority of BD and SZ patients have these types of event (4-6.5%). Psychotherapeutic intervention may be needed for within-family stigma and conflicts over genetic test results. These findings also raise ethical issues on stigma prevention, population screening, and abortion based on genotype.