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1.  Obsessive-compulsive disorder: The process of parental adaptation and implications for genetic counseling 
Journal of genetic counseling  2015;25(5):912-922.
Obsessive-compulsive disorder (OCD) has primarily pediatric onset and well-documented unique impacts on family functioning. Limited research has assessed the understanding that parents of children with OCD have of the etiology of the condition, and there are no data regarding potential applications of genetic counseling for this population. We recruited 13 parents of 13 children diagnosed with OCD from the OCD Registry at British Columbia Children’s Hospital, and conducted qualitative semi-structured telephone interviews to explore participants’ experiences with their child’s OCD, causal attributions of OCD, and perceptions of two genetic counseling vignettes. Interviews were audio-recorded, transcribed, and analyzed using elements of grounded theory qualitative methodology. Analysis revealed key components and contextual elements of the process through which parents adapt to their child’s OCD. This adaptation process involved conceptualizing the meaning of OCD, navigating its impact on family dynamics, and developing effective illness management strategies. Adaptation took place against a backdrop of stigmatization and was shaped by participants’ family history of mental illness and their child’s specific manifestations of OCD. Parents perceived genetic counseling, as described in the vignettes, as being empowering, alleviating guilt and blame, and positively impacting treatment orientation. These data provide insight into the process of parental adaptation to pediatric OCD, and suggest that genetic counseling services for families affected by OCD may help facilitate adaptation to this illness.
doi:10.1007/s10897-015-9914-9
PMCID: PMC4942265  PMID: 26639756 CAMSID: cams5453
obsessive-compulsive disorder; pediatric; parents; adaptation; psychiatric genetic counseling; qualitative
2.  Impact of increased risk for fetal aneuploidy on maternal mood: a prospective longitudinal study 
Introduction
Our goal was to prospectively compare the trajectories of depression symptoms through pregnancy and the postpartum between women who received normal prenatal screening results and those whose results indicated an increased risk for fetal aneuploidy.
Material and Methods
Women completed the Edinburgh Postnatal Depression Scale (EPDS) at four-week intervals between <26 weeks gestation and three months postpartum. We categorized women into four groups: 1) negative serum screening and ultrasound results (SS−/US−, n=103), 2) positive serum screening/negative ultrasound results (SS+/US−, n=42), 3) negative serum screening/positive ultrasound results (SS−/US+, n=19), or 4) positive serum screening and ultrasound results (SS+/US+, n=13), and compared EPDS scores between groups using Poisson regression.
Results
Women who received any positive prenatal screening result had significantly higher EPDS scores during pregnancy than SS−/US− women (p = 0.002), with SS−/US+ women having the highest scores. During the postpartum, any positive screening test result was only marginally significantly associated with EPDS scores (p=0.06), but women in the SS−/US+ group had significantly higher scores than women in the SS−/US− group (p = 0.05).
Conclusion
Our data suggest that different types of prenatal screening tests may have different effects on women’s moods, and that depression symptoms persist for women who have soft markers identified on ultrasound.
doi:10.1111/aogs.12951
PMCID: PMC5226846  PMID: 27461056 CAMSID: cams6464
Prenatal screening; soft markers; depression; mood; postpartum; pregnancy
3.  2020 Vision: Genetic counselors as acknowledged leaders in integrating genetics and genomics into healthcare 
doi:10.1007/s10897-015-9913-x
PMCID: PMC5469621  PMID: 26585496 CAMSID: cams6462
4.  Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it? 
Journal of genetic counseling  2016;26(2):334-336.
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.
doi:10.1007/s10897-016-0025-z
PMCID: PMC5383505  PMID: 27804046
Psychotherapeutic genetic counseling; Genetic counseling; Psychotherapy
5.  Theories for Psychotherapeutic Genetic Counseling: Fuzzy Trace Theory and Cognitive Behavior Theory 
Journal of genetic counseling  2016;26(2):322-330.
Psychotherapeutic genetic counseling is an increasingly relevant practice description. In this paper we aim to demonstrate how psychotherapeutic genetic counseling can be achieved by using psychological theories to guide one’s approach to working with clients. We describe two illustrative examples, fuzzy trace theory and cognitive behavior theory, and apply them to two challenging cases. The theories were partially derived from evidence of beneficial client outcomes using a psychotherapeutic approach to patient care in other settings. We aim to demonstrate how these two specific theories can inform psychotherapeutic genetic counseling practice, and use them as examples of how to take a psychological theory and effectively apply it to genetic counseling.
doi:10.1007/s10897-016-0023-1
PMCID: PMC5383519  PMID: 27812918
Psychotherapeutic genetic counseling; Genetic counseling; Fuzzy trace theory; Shared decision making; Cognitive behavior therapy
6.  Perinatal psychosis in mothers with a history of major depressive disorder 
Archives of women's mental health  2015;19(2):253-258.
Purpose
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.
Methods
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.
Results
Fourteen of 60 women (23%) scored above threshold for psychosis at one or more time-points, with six experiencing postpartum onset. There was a non-significant trend (p = 0.073) towards higher frequency of these symptoms among mothers of girls.
Conclusions
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.
doi:10.1007/s00737-015-0561-9
PMCID: PMC4739833  PMID: 26260036 CAMSID: cams5165
depression; pregnancy; postpartum; mental illness; psychosis
7.  The effect of genetic test-based risk information on behavioral outcomes: a critical examination of failed trials and a call to action 
Encouraging individuals at risk for common complex disease like heart disease, cancer and diabetes to adopt lifestyle changes (e.g. smoking cessation, exercise, proper nutrition, increased screening) could be powerful public health tools to decrease the enormous personal and economic burden of these conditions. Theoretically, genetic risk information appears to be a compelling tool that could be used to provoke at-risk individuals to adopt these lifestyle changes. Unfortunately however, numerous studies now have now shown that providing individuals with genetic test-based risk information has little to no impact on their behavior. In this article (a commentary, not a systematic review), the failed trials in which genetic information has been used as a tool to induce behavior change will be critically examined in order to identify new and potentially more effective ways forward.
doi:10.1002/ajmg.a.37289
PMCID: PMC4715431  PMID: 26284465 CAMSID: cams5166
heuristics; biases; behavioral economics; lifestyle modification; behavioral change; genetic risk; diabetes; cancer; heart disease; complex disorders; genetic counseling
8.  Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: a 12-year, retrospective chart review 
Individuals with 22q11.2 Deletion Syndrome (22qDS) have increased risk for psychiatric disorders. However, while medical geneticists self-report discussing psychiatric features of 22qDS with families (though often only when the child is older), most parents of children with 22qDS report receiving information about the psychiatric manifestations of 22qDS from non-medical sources. In an attempt to reconcile these previous findings, we sought to objectively determine the frequency with which medical geneticists discuss the potential psychiatric manifestations of 22qDS: a) in letters to referring physicians, and b) with families, and to explore plans for follow up. We abstracted data from charts of patients with 22qDS who were referred to a single medical genetics centre between January 1, 2000 and December 31, 2012. Psychiatric disorders were discussed in consult letters to referring physicians for n=57 (46%) of the 125 patients who met inclusion criteria – making them less frequently discussed than all other features of 22qDS. Despite exhaustive review of charts, the content of discussions with families was typically unclear. Follow-up in medical genetics was suggested for 50 people but only 18 (36%) of these patients returned. Disclosure of psychiatric features of 22qDS to families is necessary so that psychiatric disorders can be identified in time for early intervention to be implemented to achieve better prognosis for those affected. These empiric data offer some explanation as to why psychiatric services are underused by individuals with 22qDS.
doi:10.1002/ajmg.a.37190
PMCID: PMC4630006  PMID: 26033850 CAMSID: cams5164
clinical genetics; Di-George; velo-cardiofacial syndrome; psychiatric disorders; psychiatric illness
9.  A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses 
The Journal of clinical psychiatry  2016;77(2):e190-e198.
Objective
The serious mental illnesses schizophrenia, schizoaffective disorder, and bipolar disorder are complex conditions affecting 1–4% 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 waitlist.
Methods
A pilot three-arm (each n=40; genetic counseling, a control intervention involving an educational booklet, or waitlist), parallel group, randomized clinical trial was conducted from September 2008–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 one-month follow-up. The Brief Symptom Inventory was administered to control for current symptoms. Analyses included linear mixed effects models and chi-squared tests.
Results
Knowledge increased for genetic counseling/educational booklet compared to waitlist at follow-up (LRT=19.33, df=1, Holm-adjusted p=0.0003, R2LMM(m)=0.17). Risk perception accuracy increased at follow-up for genetic counseling compared to waitlist (Yates’ continuity corrected χ2=9.1, df=1, Bonferroni p=0.003) and educational booklet (Yates’ continuity corrected χ2=8.2, df=1, Bonferroni p=0.004). 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; http://clinicaltrials.gov/ct2/show/NCT00713804?term=genetic+counseling&rank=4
doi:10.4088/JCP.14m09710
PMCID: PMC4864025  PMID: 26930535 CAMSID: cams5452
mental illness; genetic counseling; psychiatric disorders; bipolar disorder; schizophrenia; schizoaffective disorder; internalized stigma; perceived control; knowledge; risk perception; randomized clinical trial
10.  Healthy Young Minds: The Effects of a 1-hour Classroom Workshop on Mental Illness Stigma in High School Students 
Community mental health journal  2014;51(3):329-337.
Background
This study aimed to test the effects of a one-hour classroom-based workshop, led by medical students, on mental illness stigma amongst secondary school students.
Method
Students (aged 14–17) from three public secondary schools in British Columbia participated in the workshop. A questionnaire measuring stigma (including stereotype endorsement and desire for social distance) was administered immediately before (T1), immediately after (T2), and 1-month post-workshop (T3).
Results
A total of 279 students met the study inclusion criteria. Total scores on the stigma scale decreased by 23% between T1 and T2 (p<0.01). This was sustained 1-month post-workshop with a 21% stigma reduction compared to pre-intervention (p<0.01). This effect was primarily due to improvements in scores that measured desire for social distance. There were no significant changes in scores that measured stereotype endorsement.
Conclusion
Adolescents’ stigmatizing attitudes can be effectively reduced through a one-hour easily implementable and cost-effective classroom-based workshop led by medical students.
doi:10.1007/s10597-014-9763-2
PMCID: PMC4318697  PMID: 25017811 CAMSID: cams4564
11.  Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact 
Clinical genetics  2014;87(3):218-224.
Background
People with psychiatric disorders and their family members have expressed interest in receiving genetic counseling (GC). In February 2012, we opened the first (to our knowledge) specialist psychiatric GC clinic of its kind, for individuals with non-syndromic psychiatric disorders and their families. Prior to GC and at a standard one-month follow-up session, clinical assessment tools are completed, specifically, the GC outcomes scale (GCOS, which measures empowerment, completed by all clients) and the Illness Management Self Efficacy scale (IMSES, completed by those with mental illness).
Methods
Consecutive English-speaking clients attending the clinic between February 1, 2012-January 31, 2013 who were capable of consenting were asked for permission to use their de-identified clinical data for research purposes. Descriptive analyses were conducted to ascertain demographic details of attendees, and paired sample t-tests to assessed changes in GCOS and IMSES scores from pre- to post GC.
Results
Of 143 clients, 7 were unable to consent, and 75/136 (55.1%) consented. Most were female (85.3%), self-referred (76%), and had personal experience of mental illness (65.3%). Mean GCOS and IMSES scores increased significantly after GC (p < 0.0001 and p = 0.011, respectively).
Conclusion
In a naturalistic setting, GC increases empowerment and self-efficacy in this population.
doi:10.1111/cge.12415
PMCID: PMC4318688  PMID: 24773225 CAMSID: cams4497
Bipolar disorder; depression; empowerment; genetic counseling; mental illness; psychiatric disorders; schizophrenia; self-efficacy
12.  Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine 
Journal of genetic counseling  2014;23(6):903-909.
Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals.
In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new—in 1979 Seymour Kessler explicitly described genetic counseling as a “kind of psychotherapeutic encounter,” an “interaction with a psychotherapeutic potential”—we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple “conduit for information” function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice.
doi:10.1007/s10897-014-9728-1
PMCID: PMC4318692  PMID: 24841456 CAMSID: cams4445
Psychosocial; psychotherapy; therapeutic; genetic counseling; evidence based medicine
13.  A “cure” for Down syndrome: What do parents want? 
Clinical genetics  2014;86(4):310-317.
Recent advancements in molecular genetics raise the possibility that therapeutics or a “cure” for Down syndrome (DS) may become available. However, there are no data regarding how parents of children with DS perceive the possibility of mitigating specific manifestations such as the intellectual disability (ID) associated with DS, or curing the condition entirely. To explore these issues, we distributed a questionnaire to members of the Lower Mainland Down Syndrome Society in British Columbia, Canada. Questionnaires were completed by 101 parents (response rate=41%). A majority (61%) viewed the possibility of reversing ID in DS positively, but only 41% said that they would “cure” their child of DS if it were possible. Twenty-seven percent of respondents said they would not “cure” their child, and 32% were unsure if they would “cure” their child. The most commonly cited motivation for opting for a “cure” was to increase their child’s independence. However, parental attitudes’ towards a “cure” for DS were complex, affected by ethical issues, perceived societal values, and pragmatic factors such as the age of the individual and long-term care-giving burden. These findings could be used by healthcare professionals supporting families who include a member with DS and to direct future research.
doi:10.1111/cge.12364
PMCID: PMC4055389  PMID: 24548046 CAMSID: cams4213
Down syndrome; intellectual disability; therapeutics; cure; attitudes; parents
14.  Ethical issues associated with genetic counseling in the context of adolescent psychiatry 
Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.
doi:10.1016/j.atg.2015.06.001
PMCID: PMC4745399  PMID: 26937355
Justice; Autonomy; Beneficence; Non-maleficence; Adolescent; Youth
15.  Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice 
Purpose
Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis.
Methods
We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified.
Results
61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor.
Conclusion
Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session.
doi:10.1002/ajmg.a.36525
PMCID: PMC4039554  PMID: 24706543 CAMSID: cams4446
Genetic diagnosis; parental experience; receiving bad news; pediatric genetics; genetic counseling
16.  Genetic counseling for common psychiatric disorders: an opportunity for interdisciplinary collaboration 
The American journal of psychiatry  2014;171(5):584-585.
doi:10.1176/appi.ajp.2014.13101421
PMCID: PMC4111654  PMID: 24788289 CAMSID: cams4565
17.  Mania and depression in the perinatal period among women with a history of major depressive disorders 
Archives of women's mental health  2014;17(2):137-143.
Background
Women with a history of major depressive disorder (MDD) have increased risks for postpartum depression, but less is known about postpartum mania in this population.
Objectives
To prospectively determine the frequency with which mania occurs in the postpartum among women who have a history of MDD, and to explore temporal relationships between onset of mania/hypomania and depression.
Methods
We administered the Structured Clinical Interview for DSM IV disorders (SCID) to pregnant women with a self-reported history of MDD to confirm diagnosis and exclude women with any history of mania/hypomania. Participants completed the Edinburgh Postnatal Depression Scale (EPDS) and Altman Self-Rated Mania scale (ASRM): once during the pregnancy (~26 weeks), and one week, one month, and three months postpartum.
Results
Among women (N=107) with a SCID-confirmed diagnosis of MDD, 34.6% (n=37) experienced mania/hypomania (defined by an ASRM score of ≥6) at ≥1 timepoint during the postpartum: and for just over half (20/37, 54%), onset was during the postpartum. The highest frequency of mania/hypomania (26.4%, n=26) was at one week postpartum. Women who experienced mania/hypomania at one week postpartum had significantly more symptoms of mania/hypomania later in the postpartum.
Conclusion
A substantive proportion of women with a history of MDD may experience first onset of mania/hypomania symptoms in the early postpartum, others may experience first onset during pregnancy. Taken with other recent data, these findings suggest a possible rationale for screening women with a history of MDD for mania/hypomania during the early postpartum period, but issues with screening instruments are discussed.
doi:10.1007/s00737-013-0408-1
PMCID: PMC3961475  PMID: 24402681 CAMSID: cams3835
postpartum; depression; mania; postnatal; hypomania; women
18.  Awareness of Genetic Counseling and Perceptions of its purpose: a survey of the Canadian public 
Journal of genetic counseling  2013;22(6):10.1007/s10897-013-9633-z.
Genetic counseling can result in better outcomes when clients understand what to expect, and at least theoretically, at some point in their lifespan, anyone could be referred for or benefit from genetic counseling. Thus, in order to identify (and ultimately address) issues around awareness of genetic counseling and perceptions of its purpose, we surveyed the Canadian general population. We acquired 1000 telephone numbers corresponding to a demographically representative sample of Canada from Survey Sampling International, and invited individuals to participate in a telephone-based survey. We administered a purpose-designed survey (in either French or English) comprising questions regarding: demographics, whether or not the individual had heard of genetic counseling, and 15 Likert scale-rated (strongly disagree – strongly agree) items about the possible purposes of genetic counseling. Responses to these 15 items were used to generate a total “knowledge score”. Of the 1000 numbers, n=372 could not be reached, and the survey was successfully administered to n=188 individuals (response rate 30%). Most respondents (n=129, 69%) had not heard of genetic counseling, and substantial proportions thought that genetic counseling aims to prevent genetic diseases and abnormalities, help couples have children with desirable characteristics, and help people to understand their ancestry. These data could be used to inform the strategy for development of future awareness efforts, and as a baseline from which to measure their effects.
doi:10.1007/s10897-013-9633-z
PMCID: PMC3825692  PMID: 23963834 CAMSID: cams3386
Public perception; Genetic counseling awareness; Genetic counseling; Genetic counselor
19.  “Nothing is absolute in life”: Understanding uncertainty in the context of psychiatric genetic counseling from the perspective of those with serious mental illness 
Journal of genetic counseling  2013;22(5):625-632.
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.
doi:10.1007/s10897-013-9594-2
PMCID: PMC3776779  PMID: 23604904 CAMSID: cams3140
Mental illness; Genetic counseling; Uncertainty; Psychiatric disorders; Bipolar disorder; Schizophrenia; Schizoaffective disorder; Satisfaction
20.  Red blood cell folate levels in pregnant women with a history of mood disorders: a case series 
Objective
Maternal folate supplementation reduces offspring risk for neural tube defects (NTDs) and other congenital abnormalities. Maternal red blood cell (RBC) folate concentrations of >906nmol/L have been associated with the lowest risk of having an NTD 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 NTDs. While 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 (<161days gestation) from n=24 women with histories of mood disorders. We also collected information about offspring congenital abnormalities and birthweight.
Results
Among women with histories of mood disorders, the mean RBC folate concentration was 674 nmol/L (range: 362 –1105nmol/L). Only 12.5% (n=3) of the women had an RBC folate concentrations >906nmol/L, despite all participants reporting current daily use of folic acid supplements. Data regarding offspring were available for 22 women: birthweights ranged from 2296g to 4819g, 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.
doi:10.1002/bdra.23144
PMCID: PMC3951991  PMID: 23760977 CAMSID: cams3096
folic acid; folate; pregnancy; mood disorders; depression; birth defects; congenital abnormalities
21.  Depression During Pregnancy: The Potential Impact of Increased Risk for Fetal Aneuploidy on Maternal Mood 
Clinical genetics  2008;75(1):30-36.
Introduction
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.
Purpose
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 medication (MEDS).
Methods
81 women attending the BC Medical Genetics Programme (MG) 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.
Results
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<.0001).
Conclusions
These results suggest a place for depression screening in prenatal genetic counselling.
doi:10.1111/j.1399-0004.2008.01056.x
PMCID: PMC3965564  PMID: 18637940 CAMSID: cams3083
DEPRESSION; FETAL ANEUPLOIDY; GENETIC COUNSELLING; MATERNAL SERUM SCREEN; MOOD; PREGNANCY; PRENATAL; ULTRASOUND SOFT MARKER
22.  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 the age for automatic eligibility for diagnostic testing had increased from 35 to 40 years old and more recently is no longer offered on the basis of age-related risks, but on the basis of other risk factors).
doi:10.1002/ajmg.a.35238
PMCID: PMC3958964  PMID: 22354662 CAMSID: cams3092
Down syndrome; prenatal testing; prenatal screening; parent’s attitudes; prenatal diagnosis; policy recommendations; guidelines
23.  Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007 
Purpose
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 provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007.
Methods
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 individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics.
Results
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.
Conclusions
In 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.
doi:10.1002/ajmg.a.33193
PMCID: PMC3958978  PMID: 20034078 CAMSID: cams3084
Family History; Genetic Counseling; Psychiatric; Referrals; Schizophrenia
24.  Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists 
Purpose
The aim of this study was to determine the frequency with which medical geneticists discuss the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) with families in relation to the frequency with which they discuss the other manifestations of the syndrome and to explore relationships between discussion of these features and stigma toward psychiatric disorders.
Methods
We surveyed medical geneticists in the United States and Canada regarding the frequency with which they discuss various features of 22q11DS with families in the context of four clinical scenarios in which only the age of the patient at diagnosis differed. Respondents also completed a 20-item validated psychometric measure of stigma towards psychiatric disorders.
Results
308/546 medical geneticists completed the survey (56% response rate). Psychiatric disorders were discussed significantly less often than other features of 22q11DS (p<0.0001), but psychiatric disorders were discussed significantly more often when the patient was ≥ 13 years old (p<0.0001), than when the patient was younger. Geneticists who discussed psychiatric disorders the least had significantly higher levels of stigma towards psychiatric disorders (p=0.007).
Conclusion
Psychiatric risks are less often discussed with families during childhood. Education for physicians to help reduce stigma towards psychiatric disorders (which may impede discussion of psychiatric disorders) may warrant exploration in this population.
doi:10.1038/gim.2013.31
PMCID: PMC3766374  PMID: 23579435 CAMSID: cams3095
22q11.2 deletion syndrome; medical geneticists; psychiatric disorders; stigma; mental illness
25.  Mothers’ perspectives on their child’s mental illness as compared to other complex disorders in their family: Insights to inform genetic counseling practice 
Journal of genetic counseling  2011;21(4):564-572.
To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families’ perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family’s experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history. This may impede the establishment of a therapeutic alliance. As research shows that most referrals for genetic counseling related to serious mental illness are for female first-degree family members of affected individuals, we sought to explore how this group perceives serious mental illness. To provide a frame of reference with which genetic counselors may be more familiar, we explored how women perceived serious mental illness compared to other common complex disorders in their family. We conducted semi-structured interviews with women who had a child with a serious mental illness (schizophrenia, schizoaffective disorder, bipolar disorder) and a first-degree relative with another common complex disorder (diabetes, heart disease, cancer). Interviews were transcribed and subjected to thematic analysis. Saturation was reached when nine women had participated. Serious mental illness was perceived as being more severe and as having a greater impact on the family than diabetes, heart disease, or cancer. Themes identified included guilt, stigma, and loss. Some of the most important issues that contribute to mothers’ perceptions that serious mental illness is more severe than other common complex disorders could be effectively addressed in genetic counseling. Developing a heightened awareness of how family members experience a relative’s mental illness may help genetic counselors to be better able to provide psychosocial support to this group, whether serious mental illness constitutes the primary reason for referral or appears in the family history during counseling for a different referral reason.
doi:10.1007/s10897-011-9420-7
PMCID: PMC3753288  PMID: 22089936 CAMSID: cams3093
stigma; guilt; psychiatric disorders; schizophrenia; bipolar disorder; serious mental illness; perceptions of mental illness

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