The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops.

Studies have consistently shown that psychiatric genetic counseling (pGC) helps people with psychiatric conditions by increasing empowerment and self-efficacy, and addressing emotions like guilt. Yet, it is not routinely provided. Genetic counselors and trainees express low confidence in their ability to provide meaningful pGC, especially in the absence of adequate training. Therefore, to address this gap a "Psychiatric Genetic Counseling for Genetic Counselors" (PG4GC) workshop was developed and delivered to 13 groups of participants (primarily qualified genetic counselors and trainees) between 2015 and 2023 (10 workshops were delivered in-person, and three virtually). Participants completed quantitative questionnaires both before and after completing the workshop to assess their comfort, knowledge, behavior, and feeling of being equipped to provide pGC. In total, 232 individuals completed the pre-workshop questionnaire and 154 completed the post-workshop questionnaire. Participants felt more comfortable, knowledgeable, and equipped to provide pGC, and reported being more likely to address psychiatric concerns after the workshop, regardless of whether they were trainees or practicing professionals and whether they completed the workshop in-person or virtually. This study suggests that the PG4GC workshop is an effective educational tool in pGC training that may aid in broader implementation of the service.

Development and evaluation of an educational resource for parents of children with 22q11.2 deletion syndrome about the psychiatric manifestations of the condition.

Parents of children with 22q11.2 deletion syndrome (22q11DS) report concern about the psychiatric manifestations of the condition, but typically receive little information about this in clinical encounters and instead find information about it elsewhere. We developed an educational booklet about the psychiatric manifestations of 22q11DS and assessed its utility among parents of children with the condition. First, six parents of individuals with 22q11DS completed cognitive interviews to review an established generic booklet about the genetics of psychiatric conditions-and to suggest 22q11DS-specific adaptations. We used these suggestions to develop a novel booklet specific to psychiatric conditions and 22q1DS. Then, before and 1-month after reading the novel 22q11DS-specific online booklet, 73 parents of children with 22q11DS (with/without psychiatric conditions) completed validated scales (measuring empowerment, stigma, intolerance of uncertainty), an adapted version of a scale measuring worry about their child developing psychiatric illness, and purpose-designed items assessing perceptions of understanding of 22q11DS and mental illness, confidence in recognizing early signs, etc. After reading the 22q11DS online booklet, participants' feelings of empowerment increased (p = 0.002), while feelings of worry about their child developing psychiatric illness decreased (p = 0.05), and they reported better understanding 22q11DS and mental illness, and increased confidence in recognizing early warning signs. There is potential benefit in broadly distributing this educational booklet to parents of children with 22q11DS.

Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: 'Awareness to Act'.

Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%-41% risk for a psychotic disorder. Although early intervention for psychiatric conditions leads to the best long-term outcomes, healthcare providers often provide inadequate information about these issues and psychiatric services are underused by this population. We conducted semi-structured interviews with parents of children with 22qDS a month after they received psychiatric genetic counseling (pGC), to evaluate outcomes and perceived value of pGC with respect to parents' needs. Using grounded theory, we generated a theoretical framework of the process of building parental awareness of psychiatric risks associated with 22qDS and protective and management strategies for mental health (MH). Parents described how after their child's diagnosis with 22qDS, a variety of barriers stalled their building awareness of psychiatric risk and protective/management strategies: dealing with the immediate symptoms of 22qDS; child's young age; parental fear and stigma; and missing MH guidance. These barriers led them to carry the burden of worrying over missing emerging psychiatric symptoms and the stress over advocating for their child's MH. Parents indicated pGC was beneficial in that led them to achieve an 'awareness to act,' feeling confident in being alert and equipped to protect and/or manage their child's MH.

A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy.

Depression during pregnancy affects 10-15% of women, and 5% of women take antidepressants during pregnancy. Clinical guidelines provide recommendations for selective serotonin reuptake inhibitor (SSRI) drug choice and dose based on CYP2D6 and CYP2C19 genotype; however, they are based on evidence from non-pregnant cohorts. This study aimed to test the hypothesis that women with function-altering variants (increased, decreased, or no function) in these pharmacogenes, taking SSRIs prenatally, would have more depression symptoms than women whose pharmacogenetic variants are associated with normal SSRI metabolism. Comprehensive CYP2D6 and CYP2C19 genotyping using a range of methods, including gene copy number analysis, was performed as secondary analyses on two longitudinal cohorts of pregnant women (N = 83) taking the SSRIs paroxetine, citalopram, escitalopram, or sertraline. The Kruskal-Wallis test compared mean depression scores across four predicted metabolizer groups: poor (n = 5), intermediate (n = 10), normal (n = 53), and ultrarapid (n = 15). There were no significant differences between mean depression scores across the four metabolizer groups (H(3) = .73, p = .87, eta-squared = .029, epsilon-squared = .0089). This is the first study of the relationship in pregnancy between CYP2C19 pharmacogenetic variations and depression symptoms in the context of SSRI use. Findings from this initial study do not support the clinical use of pharmacogenetic testing for SSRI use during the second or third trimesters of pregnancy, but these findings should be confirmed in larger cohorts. There is an urgent need for further research to clarify the utility of pharmacogenetic testing for pregnant women, especially as companies offering direct-to-consumer genetic testing expand their marketing efforts.

Psychiatric genetic counseling for serious mental illness: Impact on psychopathology and psychotropic medication adherence.

For people with serious mental illness (SMI) (schizophrenia, bipolar disorder, schizoaffective disorder), psychiatric genetic counseling (PGC) has been shown to significantly increase empowerment and illness management self-efficacy. While these outcomes are important, they are also theoretical precursors for behavior changes (e.g. improved medication adherence), and improved mental health. Therefore, we conducted the first study (repeated-measures/within-subjects design) to test the hypothesis that PGC would reduce psychiatric symptoms due to increased medication adherence. Between 2013-2018, we recruited N = 109 individuals (age 19-72) with SMI and administered the short Positive and Negative Syndrome Scale (short-PANSS) and Brief Adherence Rating Scale (BARS) at four timepoints; twice Pre-PGC (T1: 1-month Pre-PGC and T2: immediately Pre-PGC), to assess change in adherence/symptoms without any intervention (internal control condition), and twice Post-PGC (T3: 1-month and T4: 2-months Post-PGC), to assess impact of PGC. A quantile regression model investigated the relationships between short-PANSS, timepoints, and BARS. There was a significant relationship between short-PANSS and timepoints at the 75th (T4 short-PANSS scores < T1 and T2) and 90th quantiles (T4 short-PANSS scores < T2), but these results were not explained by improved medication adherence. PGC for SMI may reduce psychiatric symptoms, but confirmatory work and studies to examine mechanism are needed.

A prospective study to explore the relationship between MTHFR C677T genotype, physiological folate levels, and postpartum psychopathology in at-risk women.

BACKGROUND: The etiology of postpartum psychopathologies are not well understood, but folate metabolism pathways are of potential interest. Demands for folate increase dramatically during pregnancy, low folate level has been associated with psychiatric disorders, and supplementation may improve symptomatology. The MTHFR C677T variant influences folate metabolism and has been implicated in depression during pregnancy. OBJECTIVE: To conduct a prospective longitudinal study to explore the relationship between MTHFR C677T genotype, folate levels, and postpartum psychopathology in at-risk women. HYPOTHESIS: In the first three months postpartum, folate will moderate a relationship between MTHFR genotype and depression, with TT homozygous women having more symptoms than CC homozygous women. METHODS: We recruited 365 pregnant women with a history of mood or psychotic disorder, and at 3 postpartum timepoints, administered the Edinburgh Postnatal Depression Scale (EPDS); Clinician-Administered Rating Scale for Mania (CARS-M) and the Positive and Negative Symptom Scale (PANSS) and drew blood for genotype/folate level analysis. We used robust linear regression to investigate interactions between genotype and folate level on the highest EPDS and CARS-M scores, and logistic regression to explore interactions with PANSS psychosis scores above/below cut-off. RESULTS: There was no significant interaction effect between MTHFR genotype and folate level on highest EPDS (p = 0.36), but there was a significant interaction between genotype, folate level and log(CARS-M) (p = 0.02); post-hoc analyses revealed differences in the effect of folate level between CC/CT, and TT genotypes, with folate level in CC and CT having an inverse relationship with symptoms of mania, while there was no relationship in participants with TT genotype. There was no significant interaction between MTHFR genotype and folate level on the likelihood of meeting positive symptom criteria for psychosis on the PANSS (p = 0.86). DISCUSSION: These data suggest that perhaps there is a relationship between MTHFR C677T, folate level and some symptoms of postpartum psychopathology.

A Matched Cohort Study of Postpartum Placentophagy in Women With a History of Mood Disorders: No Evidence for Impact on Mood, Energy, Vitamin B12 Levels, or Lactation.

OBJECTIVE: Although empirical studies investigating its effects are scarce, postpartum placentophagy is increasing in popularity because of purported benefits on mood, energy, lactation, and overall nutrition. Therefore, this study sought to test the hypotheses that women who consumed their placenta (placentophagy exposed [PE]) would have (1) fewer depressive symptoms, (2) more energy, (3) higher vitamin B12 levels, and (4) less pharmaceutical lactation support during the postpartum than women who did not consume their placenta (non-placentophagy exposed [NE]). METHODS: Using data from a large, longitudinal study of gene × environment effects involving perinatal women with a history of mood disorders, the study investigators identified a PE cohort and matched them 4:1 (by psychiatric diagnosis, psychotropic medication use, supplementation, income, and age) with an NE cohort from the same dataset. The study investigated differences between the PE and NE cohorts with respect to scores on the Edinburgh Postnatal Depression Scale and Sleep-Wake Activity Inventory, vitamin B12 levels, and the use of pharmaceutical lactation support (Canadian Taskforce Classification II-2). RESULTS: The sample of 138 women (28 in the PE cohort, matched to 110 in the NE cohort) provided 80% power at α = 0.0125 to detect an effect of moderate magnitude (which can be used to approximate an effect of clinically significant magnitude).There were no differences in Edinburgh Postnatal Depression Scaleor Sleep-Wake Activity Inventory scales (P = 0.28 and P = 0.39, respectively), vitamin B12 levels (P = 0.68), or domperidone use (P = 1) between the PE and NE cohorts. CONCLUSION: These data provide no support for the idea that postpartum placentophagy improves mood, energy, lactation, or plasma vitamin B12 levels in women with a history of mood disorders.

Perinatal psychosis in mothers with a history of major depressive disorder.

While women with a history of major depressive disorder (MDD) have higher chances for postpartum depressive and manic episodes, little is known about their chance for postpartum psychosis (PPP). We prospectively assessed the frequency of perinatal psychotic symptoms among primiparous women with a history of MDD only (structured clinical interview was used to exclude women with pre-existing histories of mania or psychosis) and explored whether sex of the baby influenced these symptoms.The presence of symptoms of psychosis was defined using previously established cutoff scores on five key items from the Positive and Negative Syndrome Scale (PANSS), which was administered during pregnancy, at 1 week, 1 month, and 3 months postpartum.Fourteen of 60 women (23%) scored above threshold for psychosis at one or more time points, with 6 experiencing postpartum onset. There was a non-significant trend (p = 0.073) towards higher frequency of these symptoms among mothers of girls.If controlled studies using diagnostic interviews confirm that psychotic symptoms are relatively common among women with MDD, monitoring for psychosis during the perinatal period may be indicated in this population. The potential effect of sex of the baby on mothers' chance for PPP requires further study.