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2.  Altered saturated and monounsaturated plasma phospholipid fatty acid profiles in adult males with colon adenomas 
Background
Altered lipid metabolism and plasma fatty acid (FA) levels are associated with colorectal cancer (CRC). Obesity and elevated waist circumference (WC) increase the likelihood of developing precancerous colon adenomas.
Methods
Venous blood was collected from 126 males, ages 48 to 65 years, who received routine colonoscopies. Plasma phospholipid (PPL) FAs were isolated, derivatized, and then analyzed using gas chromatography. Odds ratios (ORs) and 95% confidence intervals were determined using polytomous logistic regression after adjusting for confounding factors (i.e. age, smoking, WC, and BMI).
Results
PPL palmitic acid (PA) was inversely correlated with the presence of colon adenomas (p = 0.01). For each unit increase in palmitoleic acid (OR: 3.75, p = 0.04) or elaidic acid (OR: 2.92, p = 0.04) an individual was more likely to have adenomas relative to no colon polyps. Higher enzyme activity estimates (EAEs) of stearoyl-CoA desaturase-1 (SCD-1, p = 0.02) and elongation of very long chain-6 (Elovl-6, p = 0.03) were associated with an individual being approximately 1.5 times more likely to have an adenoma compared to no polyps.
Conclusions
PPL FAs and EAEs, which have previously been associated with CRC, are significantly different in those with adenomas when compared to those without polyps. PPL PA, elaidic acid, and SCD-1 and Elovl-6 EAEs are associated with adenomas independent of BMI and WC.
Impact
PPL PA, elaidic acid, and SCD-1 and Elovl-6 EAEs are associated with adenomas even after adjusting for obesity-related risk factors and may function as novel biomarkers of early CRC risk.
doi:10.1158/1055-9965.EPI-15-0696
PMCID: PMC4779661  PMID: 26721667
Palmitic acid; Colon adenomas; Biomarker; Fatty acid metabolism; Fatty acid desaturation
3.  Our Past Presidents 
PMCID: PMC2616465  PMID: 20893503
4.  Plasma phospholipids, non-esterified plasma polyunsaturated fatty acids and oxylipids are associated with BMI 
The obese lipid profile is associated with increased free fatty acids and triacylglycerides. Currently, little is known about the plasma lipid species associated with obesity. In this study, we compared plasma lipid fatty acid (FA) profiles as a function of BMI. Profiling phospholipid (PL) FAs and their respective oxylipids could predict which obese individuals are more likely to suffer from diseases associated with chronic inflammation or oxidative stress. We investigated the relationship between BMI and plasma PL (PPL) FA composition in 126 men using a quantitative gas chromatography analysis. BMI was inversely associated with both PPL nervonic and linoleic acid (LA) but was positively associated with both dihomo-γ-linolenic and palmitoleic acid. Compared to lean individuals, obese participants were more likely to have ω-6 FAs, except arachidonic acid and LA, incorporated into PPLs. Obese participants were less likely to have EPA and DHA incorporated into PPLs compared to lean participants. Non-esterified plasma PUFA and oxylipid analysis showed ω-6 oxylipids were more abundant in the obese plasma pool. These ω-6 oxylipids are associated with increased angiogenesis (i.e. epoxyeicosatrienoates), reactive oxygen species (i.e. 9-hydroxyeicosatetraenoate), and inflammation resolution (i.e. Lipoxin A4). In summary, BMI is directly associated with specific PPL FA and increased ω-6 oxylipids.
doi:10.1016/j.plefa.2014.12.001
PMCID: PMC4361296  PMID: 25559239
lipidome; omega-3; obesity; human; biomarker; inflammation; nervonic acid
5.  Relationship between Body Mass Index, C-Peptide, and Delta-5-Desaturase Enzyme Activity Estimates in Adult Males 
PLoS ONE  2016;11(3):e0149305.
Obesity, in particular abdominal obesity, alters the composition of plasma and tissue fatty acids (FAs), which contributes to inflammation and insulin resistance. FA metabolism is modulated by desaturases and may affect adipokine and insulin secretion. Therefore, we examined relationships between adipokines, a marker of insulin production, and plasma FA desaturase enzyme activity estimates (EAEs) in obesity. Plasma phospholipid (PPL) FAs were isolated from 126 males (ages 48 to 65 years), derivatized, and analyzed using gas chromatography. Delta-6 desaturase (D6D) and delta-5 desaturase (D5D) EAEs were calculated as the ratio of PPL 20:3/18:2 and 20:4/20:3, respectively. In body mass index (BMI) and waist circumference (WC) adjusted polytomous logistic regression analyses, PPL FAs and FA desaturase EAEs were associated with C-peptide and adiponectin. Individuals with elevated D6D EAEs were less likely (OR 0.33) to have serum adiponectin concentrations > 5.37 μg/mL, compared with adiponectin concentrations ≤ 3.62 μg/mL. Individuals with increased D5D EAEs were less likely (OR 0.8) to have C-peptide concentrations ≥ 3.32 ng/mL, and > 1.80 and ≤ 3.29 ng/mL, compared with those with C-peptide ≤ 1.76 ng/mL. The proinflammatory cytokine tumor necrosis factor-α (TNF- α) was positively associated with C-peptide, but TNF- α was not associated with the D5D EAE. C-peptide and adiponectin concentrations are associated with specific PPL FAs and FA desaturase EAEs. The relationship between C-peptide concentrations and D5D EAEs remained significant after adjusting for BMI, WC, and TNF-α. Thus, future research should investigate whether D5D inhibition may occur through a C-peptide mediated pathway.
doi:10.1371/journal.pone.0149305
PMCID: PMC4811535  PMID: 27023786
9.  Giardia sp. Cysts and Infectious Cryptosporidium parvum Oocysts in the Feces of Migratory Canada Geese (Branta canadensis) 
Fecal droppings of migratory Canada geese, Branta canadensis, collected from nine sites near the Chesapeake Bay (Maryland), were examined for the presence of Cryptosporidium parvum and Giardia spp. Cryptosporidium sp. oocysts were found in feces at seven of nine sites, and Giardia cysts were found at all nine sites. The oocysts from three sites were infectious for mice and molecularly identified as the zoonotic genotype of Cryptosporidium parvum. Waterfowl can disseminate infectious C. parvum oocysts in the environment.
PMCID: PMC106456  PMID: 9647860
10.  Survival of Infectious Cryptosporidium parvum Oocysts in Seawater and Eastern Oysters (Crassostrea virginica) in the Chesapeake Bay 
Oocysts of Cryptosporidium parvum placed in artificial seawater at salinities of 10, 20, and 30 ppt at 10°C and at 10 ppt at 20°C were infectious after 12 weeks. Those placed in seawater at 20 ppt and 30 ppt at 20°C were infectious for 8 and 4 weeks, respectively. These findings suggested that oocysts could survive in estuarine waters long enough to be removed by filter feeders such as oysters. Thereafter, 30 Eastern oysters, Crassostrea virginica, were collected with a dredge or with hand tongs at each of six sites within Maryland tributaries of the Chesapeake Bay in May and June and in August and September of 1997. Hemocytes and gill washings from all oysters were examined for the presence of Cryptosporidium oocysts and Giardia cysts by immunofluorescence microscopy utilizing a commercially available kit containing fluorescein isothiocyanate-conjugated monoclonal antibodies. Giardia was not detected by this method from any of the 360 oysters examined. Presumptive identification of Cryptosporidium oocysts was made in either hemocytes or gill washings of oysters from all six sites both times that surveys were conducted. In addition, during August and September, for each of the six sites, hemocytes from the 30 oysters were pooled and gill washings from the oysters were pooled. Each pool was delivered by gastric intubation to a litter of neonatal mice to produce a bioassay for oocyst infectivity. Intestinal tissue from two of three mice that received gill washings from oysters collected at a site near a large cattle farm and shoreline homes with septic tanks was positive for developmental stages of C. parvum. These findings demonstrate for the first time that oysters in natural waters harbor infectious C. parvum oocysts and can serve as mechanical vectors of this pathogen.
PMCID: PMC106369  PMID: 9501446
12.  SIALOLITHIASIS * 
PMCID: PMC403356  PMID: 20319504
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.  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
16.  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
17.  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
18.  Genetic counselors’ attitudes towards individuals with schizophrenia: desire for social distance and endorsement of stereotypes 
Background
Psychiatric disorders are profoundly stigmatized conditions. Many groups of healthcare professionals harbor negative attitudes towards affected individuals, which may interfere with the healthcare relationship, but genetic counselors’ attitudes towards individuals with psychiatric disorders have not been investigated. Thus, we conducted an exploratory study to assess genetic counselors’ desire for social distance from individuals with schizophrenia, and the degree to which stereotypes about people with schizophrenia were endorsed.
Methods
Members of the National Society of Genetic Counselors were invited to complete an online survey, which included scales measuring: desire for social distance from individuals with schizophrenia, and endorsement of positive and negative stereotypes about these individuals.
Results
In total, 142 surveys were completed. Genetic counselors expressed greater desire for social distance from an individual with schizophrenia in more intimate proposed relationship scenarios, and felt negative stereotypes about affected individuals were more typifying than positive stereotypes. Experience with psychiatric disorders did not significantly affect desired social distance or stereotypical attitudes.
Conclusions
Genetic counselors express some negative attitudes toward individuals with schizophrenia, which may impede the counselor/client relationship. Future research in this area is suggested, and efforts should be made to promote positive attitudes, which would improve the ability of genetic counselors to provide optimal service for individuals with schizophrenia and their families.
doi:10.1016/j.pec.2010.02.007
PMCID: PMC3726382  PMID: 20211537 CAMSID: cams3087
19.  Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: Implications for clinical practice 
Psychiatry research  2012;196(1):52-56.
Studies show that individuals with psychotic illnesses and their families want information about psychosis risks for other relatives. However, deriving accurate numeric probabilities for psychosis risk is challenging, and people have difficulty interpreting probabilistic information, thus some have suggested that clinicians should use risk descriptors, such as ‘moderate’ or ‘quite high’, rather than numbers. Little is known about how individuals with psychosis and their family members use quantitative and qualitative descriptors of risk in the specific context of chance for an individual to develop psychosis. We explored numeric and descriptive estimations of psychosis risk among individuals with psychotic disorders and unaffected first-degree relatives. In an online survey, respondents numerically and descriptively estimated risk for an individual to develop psychosis in scenarios where they had: A) no affected family members; and B) an affected sibling. 219 affected individuals and 211 first-degree relatives participated. Affected individuals estimated significantly higher risks than relatives. Participants attributed all descriptors between “very low” and “very high” to probabilities of 1%, 10%, 25% and 50%+. For a given numeric probability, different risk descriptors were attributed in different scenarios. Clinically, brief interventions around risk (using either probabilities or descriptors alone) are vulnerable to miscommunication and potentially profoundly negative consequences –interventions around risk are best suited to in-depth discussion.
doi:10.1016/j.psychres.2012.02.005
PMCID: PMC3723521  PMID: 22421074 CAMSID: cams3094
risk perception; genetic counseling; probability; recurrence risks; schizophrenia; schizoaffective disorder; bipolar disorder; family members; psychosis; psychotic disorders
20.  The effects of a documentary film on public stigma related to mental illness among genetic counselors 
Journal of genetic counseling  2011;21(4):573-581.
Many people, including genetic counselors (GCs), have been found to hold stigmatizing attitudes towards people with mental illnesses. We aimed to determine whether these attitudes could be changed by exposing GCs/GC students to a documentary film about people with mental illness. We screened the documentary at the 2010 North American conferences for GCs. Immediately before (T1), immediately after (T2), and one month after (T3) watching the documentary, participants self-rated their comfort with asking patients about mental illness, and completed scales measuring two aspects of stigma: stereotype endorsement (SE) and desire for social distance (SD). A total of 87 T1 and T2 questionnaires, and 39 T3 questionnaires were returned. At T2 and T3, 34.5% and 48.7% respectively reported feeling more comfortable to ask patients about mental illness. Scores on SD and SE scales decreased significantly from T1 to T2, but returned to initial levels at T3. The documentary increased GC/GC students’ comfort with asking about mental illness and temporarily decreased stigmatizing attitudes.
doi:10.1007/s10897-011-9414-5
PMCID: PMC3706328  PMID: 22037897 CAMSID: cams3090
Stigma; mental illness; genetic counseling; genetic counselor; documentary; schizophrenia; bipolar disorder; social distance; stereotype endorsement
21.  Exploring Genetic Counselors’ Perceptions of and Attitudes Towards Schizophrenia 
Public health genomics  2009;13(1):21-26.
Schizophrenia is a common complex condition, for which no genetic testing is yet clinically available. Genetic counseling for psychiatric disorders is viewed by genetic counselors as a growth area, and to meet any increase in demand it is important to understand existing context. Thus, we surveyed general practice members of the National Society of Genetic Counselors, to examine perceptions and attitudes relating to schizophrenia. A total of 136 genetic counselors completed the survey, of whom 50% were engaged in general practice roles and therefore eligible to participate. Of these 40% reported “rarely” or “never” asking about psychiatric illness when taking a family history. Some respondents expressed concern that discussing genetics of schizophrenia and providing risk assessment with families may be more confusing or worrisome than helpful. Many counselors reported that patients feel frustrated with the inability of genetic counselors to provide individual risk calculations. It appears that genetic counselors are reluctant to ask patients about psychiatric illness, and are concerned that their services might not be helpful in the context of schizophrenia.
doi:10.1159/000210096
PMCID: PMC3706330  PMID: 19321939 CAMSID: cams3086
genetic counseling; psychiatric; schizophrenia; risk assessment; family history
22.  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
23.  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
24.  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
25.  “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

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