Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the technology for identifying individual-specific genetic variants (genotyping) has become more accessible. Next generation sequencing (NGS) is a cost-effective option for genotyping patients at many pharmacogenomic loci simultaneously, and guidelines for implementation of these data are available from organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG). NGS and related technologies are increasing knowledge in the research sphere, yet rates of genomic literacy remain low, resulting in a widening gap in knowledge translation to the patient. Multidisciplinary teams—including physicians, nurses, genetic counsellors, and pharmacists—will need to combine their expertise to deliver optimal pharmacogenomically-informed care.

From The Journal of Clinical Psychiatry:

Attention-deficit/hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder that frequently persists into adulthood, with 3% of adult women having a diagnosis of ADHD. Many women are diagnosed and treated during their reproductive years, resulting in management implications across pregnancy and postpartum. We know from clinical practice that ADHD symptoms frequently become challenging to manage during the perinatal period, requiring additional support and attention. There is often uncertainty among healthcare providers regarding the management of ADHD in the perinatal period, particularly the safety of pharmacotherapy for the developing fetus. This guideline is focused on best practices in managing ADHD in the perinatal period. We recommend: 1) mitigation of risks associated with ADHD worsening during the perinatal period via individualized treatment planning; 2) delivery of psychoeducation, self-management strategies/coaching, and psychotherapies; and, for those with moderate/severe ADHD, 3) consideration of ADHD pharmacotherapy, which has largely reassuring safety data. Specifically, providers should work collaboratively with patients and their support networks to balance the risks of perinatal ADHD medication with the risks of inadequately treated ADHD in pregnancy. The risks and impacts of ADHD in pregnancy can be successfully managed through preconception counselling and appropriate perinatal planning, management, and support.

No genetic tests are currently clinically available for serious mental illnesses such as schizophrenia and bipolar disorder. Rather, the full spectrum of genetic variants that confer susceptibility remain unknown, and estimates of probability of condition recurrence typically have the form of ranges rather than single absolute numbers. Genetic counselors have been shown to feel that the information that can be provided for patients with serious mental illness could be more confusing than helpful. However, how those with serious mental illness perceive this uncertainty remains unknown. So, to investigate this, individuals with serious mental illness participated in a psychiatric genetic counseling (GC) session and responded to a single open ended question about their reactions towards the uncertainty that they encountered in their GC session immediately and one month post‐counseling (from which themes were identified), and completed the Genetic Counseling Satisfaction Scale immediately post‐session (descriptive statistics applied). While some of the 37 participants were disappointed with the uncertainty, twice as many were unconcerned. Overall, responses from immediately and one month after GC were very similar; participants were very satisfied with, and found value in GC despite uncertainty, and four approaches to coping with uncertainty emerged. Ultimately, these findings offer insight into providing GC for those with serious mental illness, and potentially could be applied to other areas of GC where uncertainty lies, with downstream impact on GC practice and future research.

Background: Serious mental illness (SMI) is profoundly stigmatised, such that there is even an impact on relatives of people with SMI.Aims: To develop and validate a scale to comprehensively measure self-stigma among first-degree relatives of individuals with SMI.Method: We conducted group interviews focusing on self-stigma with first-degree relatives (n = 20) of people with SMI, from which 74 representative quotations were reframed as Likert-type items. Cognitive interviews with relatives (n = 11) identified 30 items for the Self-Stigma in Relatives of people with Mental Illness (SSRMI) scale. Relatives (n = 195) completed the scale twice, a month apart, together with four external correlate scales.Results: The 30-item SSRMI was reliable, with scores stable over time. Its single-factor structure allowed generation of a 10-item version. Construct validity of 30- and 10-item versions was supported by expected relationships with external correlates.Conclusions: Both versions of the SSRMI scale are valid and reliable instruments appropriate for use in clinical and research contexts.Declaration of interest: None.