Cancer Genetic Counselor Information Needs for Risk Communication: A Qualitative Evaluation of Interview Transcripts

Personalized medicine is a model of healthcare that is predictive, personalized, preventive and participatory (“P4 Medicine”). Genetic counselors are an ideal group to study when designing tools to support cancer P4 Medicine activities more broadly. The goal for this work was to gain a better understanding of the information cancer genetic counselors seek from their patients to facilitate effective information exchange for discussing risk. This was an analysis of a qualitative data set from interviews of eight cancer genetic counselors, recruited from three institutions. Genetic counselors at each site were interviewed using a semi-structured, open-ended questionnaire. A selective coding approach was used to determine major themes associated with genetic counseling information needs for communicating risk. We generated a model for understanding categories of genetic counseling information needs to support risk communication activities. Common activities for risk communication included risk assessment and tailoring communication. Categories of information needs included: (a) clinical patient characteristics, (b) social and cognitive patient characteristics and (c) patient motivation and goals for the genetic counseling session. A logical next step is for this model to inform the design of software systems for pre-visit patient planning and delivering just-in-time educational information to facilitate cancer risk communication activities

Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda

Increasing use of preimplantation genetic diagnosis (PGD) poses numerous clinical, social, psychological, ethical, legal and policy dilemmas, many of which have received little attention. Patients and providers are now considering and using PGD for a widening array of genetic disorders, and patients may increasingly seek ‘designer babies.’ In the USA, although governmental oversight policies have been discussed, few specific guidelines exist. Hence, increasingly, patients and providers will face challenging ethical and policy questions of when and for whom to use PGD, and how it should be financed. These issues should be better clarified and addressed through collection of data concerning the current use of PGD in the USA, including factors involved in decision making about PGD use, as well as the education of the various communities that are, and should be, involved in its implementation. Improved understanding of these issues will ultimately enhance the development and implementation of future clinical guidelines and policies

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/143784/1/jah33022.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/143784/2/jah33022_am.pd

Decision‐Making About Reproductive Choices Among Individuals At‐Risk for Huntington's Disease

We explored how individuals at‐risk for HD who have or have not been tested make reproductive decisions and what factors are involved. We interviewed 21 individuals (8 with and 4 without the mutation, and 9 un‐tested) in‐depth for 2 hours each. At‐risk individuals faced a difficult series of dilemmas of whether to: get pregnant and deliver, have fetal testing, have pre‐implantation genetic diagnosis, adopt, or have no children. These individuals weighed competing desires and concerns: their own desires vs. those of spouses vs. broader moral concerns (e.g., to end the disease; and/or follow dictates against abortion) vs. perceptions of the interests of current or future offspring. Quandaries arose of how much and to whom to feel responsible. Some changed their perspectives over time (e.g., first “gambling,” then being more cautious). These data have critical implications for genetic counselors and other health care workers and future research, particularly as more genetic tests become available

Celiac disease and Down syndrome mortality: a nationwide cohort study

Background: Individuals with Down syndrome (DS) have increased mortality and are also at increased risk of celiac disease (CD). It is unknown if CD influences mortality in DS. In this study we examined the risk of death in individuals with DS according to celiac status. Methods: In this nationwide population-based cohort study, we first identified individuals with CD (diagnosed 1969-2008) through small intestinal biopsy report data showing villous atrophy (Marsh stage III) from Sweden's 28 pathology departments. Celiac individuals were then matched with up to five reference individuals from the general population. In these cohorts we identified individuals with DS using International Classification of Disease codes (ICD) registered in the Swedish Patient Register (includes inpatients and hospital-based outpatients), the Medical Birth Register, and the Register of Congenital Malformations. Of 29,096 individuals with CD, 201 (0.7%) had DS compared to 124 of the 144,522 reference individuals (0.09%). Data on mortality were obtained from the Swedish Cause of Death Registry. Hazard ratios (HRs) for death were calculated using Cox regression. Results: During follow-up, there were seven deaths among individuals with DS and CD (7/201, 3.5%) as compared with 14 deaths among DS individuals without a record of CD (14/124, 11.3%). Adjusting for potential confounders, CD did not influence the risk of death in DS (HR = 1.36; 95% CI = 0.33-5.59). Cardiovascular death occurred in two individuals with CD and three individuals without CD, while death from malignancy occurred in one individual with CD and two individuals without CD. Conclusion: While both DS and CD have been linked to increased risk of death, this study found no excess mortality in DS patients with a concurrent diagnosis of CD, however confidence intervals were wide

Disclosures of Huntington disease risk within families: Patterns of decision‐making and implications

Patterns of disclosure of Huntington disease risk and genetic test results among family members are important, but have been underexplored. We interviewed 21 individuals in‐depth—eight mutation‐positive for HD, four mutation‐negative, and nine not tested—for 2 hr each. Within families, critical questions arose of what, when, and to whom to disclose, and what to do post‐disclosure. Interviewees wrestled with dilemmas of what to tell (e.g., suspicions vs. confirmed symptoms; initiation vs. completion of testing; partial vs. indirect information), how to disclose (e.g., planning in advance vs. “blurting out” information in arguments), and whether and how to tell extended family members. Questions arose of when to tell (i.e., to avoid disclosing “too early” or “too late”). Similarities and differences emerged related to types of relationships (e.g., parents telling offspring vs. offspring telling parents vs. siblings telling each other). Individuals often disclosed because of perceived duty to foster the health of their family members, enabling these others to pursue appropriate medical evaluation, if desired. Yet tensions arose because the information could burden these members, who also have rights to remain “in denial” if they wish and not discuss the topic or pursue testing. Post‐disclosure, dilemmas emerged of whether and how much to encourage family members to pursue testing. These data shed important light on critical issues that have received little, if any, attention concerning what, how, and when disclosure occurs, and have key implications for at‐risk individuals, genetic counselors, and other health care workers (HCWs), and for future research. At‐risk individuals would benefit from considering these issues in advance. HCWs need to realize that these decisions are multi‐faceted. Future research can explore whether, when, how, and how often HCWs raise these issues with individuals

Receiving de novo genetic diagnoses for autism with intellectual disability: parents’ views of impacts on families’ reproductive decisions

Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child’s autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child’s parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overall, in whether the results had affected, or might have influenced, their reproductive decisions. Parents’ views were shaped by factors related to not only genetics, but also parental age, financial considerations, competing hopes and visions for their family’s future, perceived abilities to care for an additional child with similar symptoms, and the extent of the child’s symptoms. Members of a couple sometimes disagreed about whether to have more children. Parents pondered, too, the possibility of preimplantation genetic testing, though misunderstandings about it arose. Children with autism vary widely in their abilities to understand the reproductive implications of genetic diagnoses for themselves. Neurotypical offspring were much relieved to understand that their own children would not be affected. While some autism self-advocates have been concerned that genetic testing related to autism could lead to eugenics, the present data, concerning de novo genetic findings, raise other perspectives. These data, the first to explore several key aspects of the reproductive implications of genetic diagnoses for this group, have important implications for future practice, education, and research—e.g., concerning various family members

Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability

To assess whether genetic test results identifying the cause of a child’s autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs. Parents often blamed their child less, saw their child as less in control of symptoms, and developed more patience, framing expectations accordingly. Parents had mixed feelings about receiving genetic diagnoses, with sadness sometimes accompanying reframed expectations. Genetic diagnoses could change views of the child among extended family members, teachers, social service agencies, insurers, and broader communities and society. Genetic testing might also reduce delays in diagnoses of autism among African American, Latino and other children. These data, the first to examine several critical aspects of how parents and others view children with autism and other NDDs after receiving genetic diagnoses, highlight vital needs for education of multiple stakeholders (including geneticists, other physicians, genetic counselors, parents, individuals with autism, social service agencies, insurers, policymakers, and the broader public), research (to include perspectives of extended family members, insurers, social service agencies and teachers) and practice (to increase recognition and awareness of the potential benefits and effects of genetic testing for such children)