Catriona Hippman

“Nothing is Absolute in Life”: Understanding Uncertainty in the Context of Psychiatric Genetic Counseling from the Perspective of those with Serious Mental Illness

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.

What is a "balanced" description? Insight from parents of individuals with down syndrome.

Genetic counselors and parents of individuals with Down syndrome (DS) agree that descriptions of DS in prenatal settings should be “balanced.” However, there is no consensus regarding what constitutes a balanced description of DS. A survey was designed in collaboration with, and sent to the membership of, the British Columbia based Lower Mainland Down Syndrome Society (N = 260). Respondents were asked how they would describe DS to a couple who have just received a prenatal diagnosis of the condition. We rated the descriptions provided for positivity/negativity. Completed surveys were returned by 101 members, the majority of whom were Caucasian (87%) and female (79%). Participants’ descriptions of DS ranged from entirely positive (n = 5; 10%) to entirely negative (n = 4; 7%) in nature. Deriving a description of DS that would broadly be perceived as “balanced” may be impossible. Instead, it may be more important to explore the range of possibilities regarding the family experience of raising a child with DS using nonjudgmental terminology, and to help families evaluate these possibilities in the context of their own values, coping strategies, and support networks.

Genetic counseling for schizophrenia: A review of referrals to a provincial medical genetics program from 1968 to 2007†

Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the BC provincial medical genetics program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individuals and partners (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Our results showed that between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first‐degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. In conclusion, for British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access.

A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses.

OBJECTIVE The serious mental illnesses schizophrenia, schizoaffective disorder, and bipolar disorder are complex conditions affecting 1% to 4% of the population. Individuals with serious mental illnesses express interest in genetic counseling, an intervention showing promise for increasing patient knowledge and adaptation. This trial aimed to evaluate the effects of genetic counseling for people with serious mental illnesses as compared to an educational intervention or wait list. METHOD A pilot 3-arm (each n = 40; genetic counseling, a control intervention involving an educational booklet, or wait list), parallel-group, randomized clinical trial was conducted from September 2008 through November 2011 in Vancouver, Canada. Participants with schizophrenia, bipolar disorder, or schizoaffective disorder (DSM-IV) completed outcome measures assessing knowledge, risk perception, internalized stigma, and perceived control over illness at baseline and 1-month follow-up. The Brief Symptom Inventory was administered to control for current symptoms. Analyses included linear mixed-effects models and χ(2) tests. RESULTS Knowledge increased for genetic counseling/educational booklet compared to wait list at follow-up (LRT1 = 19.33, Holm-adjusted P = .0003, R(2)LMM(m) = 0.17). Risk perception accuracy increased at follow-up for genetic counseling compared to wait list (Yates continuity corrected χ(2)1 = 9.1, Bonferroni P = .003) and educational booklet (Yates continuity corrected χ(2)1 = 8.2, Bonferroni P = .004). There were no significant differences between groups for stigma or perceived control scores. CONCLUSIONS Genetic counseling and the educational booklet improved knowledge, and genetic counseling, but not the educational booklet, improved risk perception accuracy for this population. The impact of genetic counseling on internalized stigma and perceived control is worth further investigation. Genetic counseling should be considered for patients with serious mental illnesses. TRIAL REGISTRATION ClinicalTrials.gov identifier: NCT00713804.

Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome

This exploratory, descriptive study examined the views and opinions of parents of individuals with Down syndrome (DS) related to prenatal testing for DS and the use of age‐based criteria to determine eligibility for this testing. This survey‐based study was designed in collaboration with parents of individuals with DS and the British Columbia‐based Lower Mainland Down Syndrome Society (LMDSS). The survey was a 26‐item, self‐report questionnaire, which was distributed by the LMDSS. Out of the 246 potentially eligible individuals that were mailed surveys, 101 participants returned their completed surveys. The availability of prenatal screening and diagnostic testing for DS was perceived positively by 55.1% and 64.7% of parents, respectively. More than half (60.2%) of participants felt that prenatal diagnostic testing for DS should be available to all pregnant women, regardless of age. In this study, views of Canadian parents of individuals with DS aligned with the prenatal testing policy recently adopted in the USA (whereby any woman, regardless of age or risk factors, can opt for prenatal diagnostic testing) rather than with new Canadian policy (whereby eligibility for diagnostic testing is no longer offered on the basis of age, but on the basis of other risk factors).

Red blood cell folate levels in pregnant women with a history of mood disorders: A case series

BACKGROUND Maternal folate supplementation reduces offspring risk for neural tube defects (NTDs) and other congenital abnormalities. Maternal red blood cell (RBC) folate concentrations of >906 nmol/L have been associated with the lowest risk of having a neural tube defect affected pregnancy. Mood disorders (e.g., depression, bipolar disorder) are common among women and can be associated with folate deficiency. Thus, pregnant women with histories of mood disorders may be prone to RBC folate levels insufficient to provide optimal protection against neural tube defects. Although previous studies have assessed RBC folate concentrations in pregnant women from the general population, none have looked specifically at a group of pregnant women who have a history of a mood disorder. METHODS We collected data about RBC folate concentrations and folic acid supplement intake during early pregnancy (<161 days gestation) from n = 24 women with histories of mood disorders. We also collected information about offspring congenital abnormalities and birth weight. RESULTS Among women with histories of mood disorders, the mean RBC folate concentration was 674 nmol/L (range, 362-1105 nmol/L). Only 12.5% (n = 3) of the women had RBC folate concentrations >906 nmol/L, despite all participants reporting current daily use of folic acid supplements. Data regarding offspring were available for 22 women: birth weights ranged from 2296 g to 4819 g, and congenital abnormalities were identified in two (hypoplastic left heart, annular pancreas). CONCLUSION Data from this exploratory case series suggest a need for future larger scale controlled studies investigating RBC folate concentrations in early pregnancy and offspring outcomes among women with and without histories of mood disorders.

Put Yourself at the Helm: Charting New Territory, Correcting Course, and Weathering the Storm of Career Trajectories

What bearing have you set you set your sights on? How do you navigate the ever-changing swells and winds of our professional landscape? Are you feeling a nebulous desire for change, that your career is not going in the direction you were expecting, worry about lack of future opportunities, or even a deep dissatisfaction in your current position? You are not alone. The formation of the Committee on Advanced Training for Certified Genetic Counselors (CATCGC) was partly in response to such sentiments, expressed within a vibrant dialogue amongst members of the genetic counseling community. The CATCGC sought to understand how genetic counselors chart courses for their careers by conducting a Decision Points exercise during a pre-conference symposium (PCS) at the 2014 NSGC Annual Education Conference. Participants were asked to identify a decision point at which they were most satisfied with their careers and one at which they were least satisfied and to describe the situation, their personal goals and intentions, any actions they took, and the outcomes. Qualitative analysis in the constructivist tradition was conducted on participants’ responses and facilitators’ notes from the PCS to explore what personal meanings were made of the decision points; twelve themes related to Career High Points, Low Points, and how genetic counselors made career transitions were identified. Using a constructivist framework, themes are presented in the context of the authors’ personal experiences, and the authors’ share their reflections on these data. We wrote this article to offer you a window into your peers’ experiences - the good, the bad, and the ugly - hoping to encourage and challenge you to reflect deeply, no matter where you are on your career journey.

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities

There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master’s training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model.

Depression During Pregnancy: The Potential Impact of Increased Risk for Fetal Aneuploidy on Maternal Mood

Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compared symptoms of depression in women who had increased risks for fetal aneuploidy with two other groups of pregnant women at similar gestational ages: controls, and women taking antidepressant medications (MEDS). Eighty‐one women attending the British Columbia (BC) Medical Genetics (MG) Program regarding positive maternal serum screens or ultrasound soft marker findings completed the Edinburgh Postnatal Depression Scale (EPDS). Control (n = 41) and MEDS (n = 41) groups were recruited from the community or the BC Reproductive Mental Health program. A threshold score of 12 on the EPDS was used to calculate percentages of women likely to be depressed. Mean EPDS scores were compared using anova, followed by post‐hoc tests. In the control, MG, and MEDS groups, 2.4%, 35%, and 52.4% of women, respectively, scored above 12. Mean EPDS score was significantly higher in the MG group than in the control group (p < 0.0001). These results suggest a place for depression screening in prenatal genetic counseling.

Women's decision making about antidepressant use during pregnancy: A narrative review

Depression is common, particularly among women of childbearing age, and can have far‐reaching negative consequences if untreated. Efficacious treatments are available, but little is known about how women make depression treatment decisions during pregnancy. The purpose of this narrative review is to interpretively synthesize literature on womens decision making (DM) regarding antidepressant use during pregnancy.