Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre-post analysis.

Psychiatric genetic counseling (GC) has been associated with patient-reported increases in empowerment (perceived control, emotional regulation, and hope). We sought to evaluate the extent to which patients' psychological state at the time of GC is related to changes in empowerment. Participants with a history of major depressive disorder and/or bipolar disorder that had been refractory to treatment underwent psychiatric GC remotely from 2022 to 2023. GC was performed by four genetic counselors and included discussion of perceived causes of illness, multifactorial inheritance, and protective factors. Empowerment, depression, and anxiety were measured immediately prior to GC via online survey by the GCOS-16, PHQ-9, and GAD-7, respectively. Empowerment was re-assessed 2 weeks later. In total, 66/161 (41.0%) invited individuals completed both the baseline and follow-up surveys. Participants completing both surveys were 54.6% female, 84.8% white, and ranged in age from 22 to 78 years (mean = 54.8 years). Overall, a significant change in mean empowerment was not observed (p = 0.38); however, there were moderating effects by baseline psychological state. A multiple linear regression model incorporating PHQ-9, GAD-7 and baseline GCOS-16 score predicted change in empowerment with a large effect (F = 5.49, R2 = 0.21, p < 0.01). A higher score on the PHQ-9 was associated with decreases in empowerment from pre to post GC. Higher scores on the GAD-7 and lower baseline GCOS-16 scores were associated with increases in empowerment. Further, two-way ANOVA was conducted to assess change in empowerment between subgroups based on the level of anxiety and depression. Those with low depression and high anxiety reported significant increases in empowerment (F = 6.64, p = 0.01). These findings suggest that psychiatric GC may be especially helpful to individuals experiencing anxiety and low baseline empowerment. Alternative approaches may be needed to best meet the needs of those experiencing significant depression.

Considerations for the use of qualitative methodologies in genetic counseling research.

An abundance of qualitative research is being conducted within the genetic counseling field. As this area of research expands, many within our community are "learning through doing", an approach which is practical, but may lack theoretical grounding. This can result in study outputs that do not have the sort of utility for informing clinical practice that is the hallmark of excellent clinical qualitative research. Furthermore, our alignment as a discipline within the health sciences, which still tends to favor quantitative approaches, means that we may often be obliged to justify the use of qualitative methodologies, especially when we intend to use the findings for informing clinical practice. We aim to address these issues by providing guidance about how we, individually and collectively, might think about what excellent qualitative research can look like in our field. In addition to providing information and resources about current best-practices, we discuss how quality can be ensured and evaluated. We seek to legitimize the idea of developing a philosophy of research in pursuit of establishing genetic counseling as an academic discipline. We argue that the principles, ethics, values, and practices of genetic counseling are sufficiently unique that establishing a discipline-specific qualitative research framework is not only warranted, but essential. Ultimately, we hope that this paper can serve as a launching point from which additional discussion about qualitative research can emanate as we strive towards the elevation of this form of inquiry in our field.

Healthcare decision makers' perspectives on the creation of new genetic counselor positions in North America: Exploring the case for psychiatric genetic counseling.

Mental illnesses are common and highly heritable. Patients and their families want and benefit from receiving psychiatric genetic counseling (pGC). Though the pGC workforce is among the smallest of genetic counseling (GC) specialties, genetic counselors (GCs) want to practice in this area. A major barrier to the expansion of the pGC workforce is limited availability of advertised positions, but it remains unclear why this is the case. We used a qualitative approach to explore drivers for and barriers to the creation of GC positions (including pGC) at large centralized genetic centers in the United States and Canada that offer multiple specialty GC services. Individuals with responsibilities for making decisions about creating new clinical GC positions were interviewed using a semi-structured guide, and an interpretive description approach was used for inductive data analysis. From interviews with 12 participants, we developed a theoretical model describing how the process of creating new GC positions required institutional prioritization of funding, which was primarily allocated according to physician referral patterns, which in turn were largely driven by availability of genetic testing and clinical practice guidelines. Generating revenue for the institution, improving physician efficiency, and reinforcing institutional mission were all regarded as valued outcomes that bolstered prioritization of funding for new GC positions. Evidence of patient benefit arising from new GC positions (e.g., pGC) seemed to play a lesser role. These findings highlight the tension between how institutions value GC (generating revenue, reacting to genetic testing), and how the GC profession sees its value (providing patient benefit, focus on counseling).

Out-of-pocket and private pay in clinical genetic testing: A scoping review.

Full coverage of the cost of clinical genetic testing is not always available through public or private insurance programs, or a public healthcare system. Consequently, some patients may be faced with the decision of whether to finance testing out-of-pocket (OOP), meet OOP expenses required by their insurer, or not proceed with testing. A scoping review was conducted to identify literature associated with patient OOP and private pay in clinical genetic testing. Seven databases (EMBASE, MEDLINE, CINAHL, PsychINFO, PAIS, the Cochrane Database of Systematic Reviews, and the JBI Evidence-Based Practice database) were searched, resulting in 83 unique publications included in the review. The presented evidence includes a descriptive analysis, followed by a narrative account of the extracted data. Results were divided into four groups according to clinical indication: (1) hereditary breast and ovarian cancer, (2) other hereditary cancers, (3) prenatal testing, (4) other clinical indications. The majority of studies focused on hereditary cancer and prenatal genetic testing. Overall trends indicated that OOP costs have fallen and payer coverage has improved, but OOP expenses continue to present a barrier to patients who do not qualify for full coverage.

Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force.

To help advance research critical to the achievement of the National Society of Genetic Counselors' (NSGC) strategic objectives, coordination and prioritization of society resources are needed. NSGC convened a task force to advance research necessary for the achievement of our strategic objectives by reviewing existing society-supported research efforts identifying gaps in current research, and coordinating society resources, the task force was formed in order to coordinate and prioritize society resources to advance research critical to the achievement of our strategic objectives. The task force developed a research agenda outlining high-priority research questions for the next 5 years. The questions are organized into four domains: (a) Genetic Counseling Clients; (b) Genetic Counseling Process and Outcomes; (c) Value of Genetic Counseling Services; and (d) Access to Genetic Counseling Services. This framework can be used to advocate for research and funding priorities within NSGC and with other key research entities to stimulate the growth and advancement of the genetic counseling profession.

Psychiatric genetic counseling: A mapping exercise.

Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a service or as part of research projects while in others, it is just emerging as a concept. In this article, we describe the current global landscape of this genetic counseling specialty and this field's professional development. Drawing on information provided by expert representatives from 16 countries, we highlight the following: (a) current understanding of PGC; (b) availability of services for patients; (c) availability of training; (d) healthcare system disparities and cultural differences impacting practice; and (e) anticipated challenges going forward.

Women's experiences of participating in a prospective, longitudinal postpartum depression study: insights for perinatal mental health researchers.

Barriers to recruitment for research on mental illness include participant distrust of researchers and social stigma. Though these issues may be acutely important in perinatal mental health research, they remain unexplored in this context. In order to inform strategies to more fully engage women in perinatal mental health research, we explored the motivations and experiences of women with a history of major depressive disorder who participated in a prospective longitudinal research study on postpartum depression (PPD). Sixteen women with a history of depression who had either completed or recently made a decision about participation in a longitudinal research study about PPD were interviewed by telephone. Qualitative, semi-structured interviews explored participants' decision-making about, and experiences of, participation. Interviews were audio-recorded, transcribed, and qualitatively analyzed using elements of grounded theory methodology. Follow-up interviews were conducted with four participants to refine and clarify preliminary results. Foundational elements necessary for women to consider participating in PPD research included personal acceptance of illness and trust in the research team/institution. Other main motivators included perceived personal relevance, anticipated benefits (including access to support/resources, learning opportunities, and improved self-worth), altruism, and accessible study procedures. Our data suggest that participating in perinatal mental health research may help women make meaning of their mental illness experience and is perceived as providing support. The findings-particularly around the importance of participant-researcher rapport and accessibility of study design-may inform strategies that improve participation rates, decrease attrition, and maximize participant benefits in perinatal mental health research.

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.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

Mania and depression in the perinatal period among women with a history of major depressive disorders.

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. The objectives of this study were 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. 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 and Altman Self-Rating Mania Scale (ASRM) once during the pregnancy (∼26 weeks) and 1 week, 1 month, and 3 months postpartum. 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 time point 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 1 week postpartum. Women who experienced mania/hypomania at 1 week postpartum had significantly more symptoms of mania/hypomania later in the postpartum. 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.

Awareness of genetic counseling and perceptions of its purpose: a survey of the Canadian public.

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 1,000 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 1,000 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.

"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.

The journey from concealment to disclosure of an obsessive-compulsive disorder diagnosis in the high school setting: A qualitative study exploring youth perspectives.

Disclosure of an OCD diagnosis in the high school setting could allow for timely provision of individualized school-based supports. As few studies have examined adolescent perspectives on the disclosure process in schools, we adopted a qualitative approach to explore this, and to gather recommendations for making disclosure of OCD at school safer and more helpful. Twelve participants, ranging from 13 to 17 years old, were recruited using maximum variance-based heterogeneous purposive sampling. Semi-structured interviews were conducted and analyzed inductively through Interpretive Description. From participants' stories, we generated a theoretical model describing the journey from concealment of an OCD diagnosis to disclosure. Four phases of youth disclosure were identified: managing enacted and perceived stigma related to the diagnosis, internal bargaining to determine their individualized disclosure boundaries, trust building with school members, and empowerment by being treated as a person first. Participants' recommendations for the school setting included meaningful education, safe spaces, deep reciprocal connections, and confidential personalized support. The model we developed can help inform school disclosure strategies and optimize support to promote best outcomes for youth with OCD.

Transdiagnostic risk of mental disorders in offspring of affected parents: a meta-analysis of family high-risk and registry studies.

The offspring of parents with mental disorders are at increased risk for developing mental disorders themselves. The risk to offspring may extend transdiagnostically to disorders other than those present in the parents. The literature on this topic is vast but mixed. To inform targeted prevention and genetic counseling, we performed a comprehensive, PRISMA 2020-compliant meta-analysis. We systematically searched the literature published up to September 2022 to retrieve original family high-risk and registry studies reporting on the risk of mental disorders in offspring of parents with any type of mental disorder. We performed random-effects meta-analyses of the relative risk (risk ratio, RR) and absolute risk (lifetime, up to the age at assessment) of mental disorders, defined according to the ICD or DSM. Cumulative incidence by offspring age was determined using meta-analytic Kaplan-Meier curves. We measured heterogeneity with the I2 statistic, and risk of bias with the Quality In Prognosis Studies (QUIPS) tool. Sensitivity analyses addressed the impact of study design (family high-risk vs. registry) and specific vs. transdiagnostic risks. Transdiagnosticity was appraised with the TRANSD criteria. We identified 211 independent studies that reported data on 3,172,115 offspring of parents with psychotic, bipolar, depressive, disruptive, attention-deficit/hyperactivity, anxiety, substance use, eating, obsessive-compulsive, and borderline personality disorders, and 20,428,575 control offspring. The RR and lifetime risk of developing any mental disorder were 3.0 and 55% in offspring of parents with anxiety disorders; 2.6 and 17% in offspring of those with psychosis; 2.1 and 55% in offspring of those with bipolar disorder; 1.9 and 51% in offspring of those with depressive disorders; and 1.5 and 38% in offspring of those with substance use disorders. The offspring's RR and lifetime risk of developing the same mental disorder diagnosed in their parent were 8.4 and 32% for attention-deficit/hyperactivity disorder; 5.8 and 8% for psychosis; 5.1 and 5% for bipolar disorder; 2.8 and 9% for substance use disorders; 2.3 and 14% for depressive disorders; 2.3 and 1% for eating disorders; and 2.2 and 31% for anxiety disorders. There were 37 significant transdiagnostic associations between parental mental disorders and the RR of developing a different mental disorder in the offspring. In offspring of parents with psychosis, bipolar and depressive disorder, the risk of the same disorder onset emerged at 16, 5 and 6 years, and cumulated to 3%, 19% and 24% by age 18; and to 8%, 36% and 46% by age 28. Heterogeneity ranged from 0 to 0.98, and 96% of studies were at high risk of bias. Sensitivity analyses restricted to prospective family high-risk studies confirmed the pattern of findings with similar RR, but with greater absolute risks compared to analyses of all study types. This study demonstrates at a global, meta-analytic level that offspring of affected parents have strongly elevated RR and lifetime risk of developing any mental disorder as well as the same mental disorder diagnosed in the parent. The transdiagnostic risks suggest that offspring of parents with a range of mental disorders should be considered as candidates for targeted primary prevention.

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).

Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: implications for clinical practice.

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. Participants comprised 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 negative consequences-interventions around risk are best suited to in-depth discussion.

Effects of a documentary film on public stigma related to mental illness among genetic counselors.

Many people, including genetic counselors, have been found to hold stigmatizing attitudes towards people with mental illnesses. We aimed to determine whether these attitudes could be changed by exposing genetic counselors and genetic counseling students to a documentary film about people with mental illness. We screened the documentary at the 2010 North American conferences for genetic counselors. 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 they completed scales measuring two aspects of stigma: stereotype endorsement, and desire for social distance. 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 the social distance and stereotype endorsement scales decreased significantly from T1 to T2, but returned to initial levels at T3. The findings suggest the documentary increased genetic counselors' and genetic counseling students' comfort with asking about mental illness and temporarily decreased their stigmatizing attitudes.

Mothers' perspectives on their child's mental illness as compared to other complex disorders in their family: insights to inform genetic counseling practice.

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.

A tool for translating polygenic scores onto the absolute scale using summary statistics.

There is growing interest in the clinical application of polygenic scores as their predictive utility increases for a range of health-related phenotypes. However, providing polygenic score predictions on the absolute scale is an important step for their safe interpretation. We have developed a method to convert polygenic scores to the absolute scale for binary and normally distributed phenotypes. This method uses summary statistics, requiring only the area-under-the-ROC curve (AUC) or variance explained (R2) by the polygenic score, and the prevalence of binary phenotypes, or mean and standard deviation of normally distributed phenotypes. Polygenic scores are converted using normal distribution theory. We also evaluate methods for estimating polygenic score AUC/R2 from genome-wide association study (GWAS) summary statistics alone. We validate the absolute risk conversion and AUC/R2 estimation using data for eight binary and three continuous phenotypes in the UK Biobank sample. When the AUC/R2 of the polygenic score is known, the observed and estimated absolute values were highly concordant. Estimates of AUC/R2 from the lassosum pseudovalidation method were most similar to the observed AUC/R2 values, though estimated values deviated substantially from the observed for autoimmune disorders. This study enables accurate interpretation of polygenic scores using only summary statistics, providing a useful tool for educational and clinical purposes. Furthermore, we have created interactive webtools implementing the conversion to the absolute ( https://opain.github.io/GenoPred/PRS_to_Abs_tool.html ). Several further barriers must be addressed before clinical implementation of polygenic scores, such as ensuring target individuals are well represented by the GWAS sample.