Personalized Genomic Results: Analysis of Informational Needs

Use of genomic information in healthcare is increasing; however data on the needs of consumers of genomic information is limited. The Coriell Personalized Medicine Collaborative (CPMC) is a longitudinal study investigating the utility of personalized medicine. Participants receive results reflecting risk of common complex conditions and drug—gene pairs deemed actionable by an external review board. To explore the needs of individuals receiving genomic information we reviewed all genetic counseling sessions with CPMC participants. A retrospective qualitative review of notes from 157 genetic counseling inquiries was conducted. Notes were coded for salient themes. Five primary themes; “understanding risk”, “basic genetics”, “complex disease genetics”, “what do I do now?” and “other” were identified. Further review revealed that participants had difficulty with basic genetic concepts, confused relative and absolute risks, and attributed too high a risk burden to individual single nucleotide polymorphisms (SNPs). Despite these hurdles, counseled participants recognized that behavior changes could potentially mitigate risk and there were few comments alluding to an overly deterministic or fatalistic interpretation of results. Participants appeared to recognize the multifactorial nature of the diseases for which results were provided; however education to understand the complexities of genomic risk information was often needed.     

Different Perspectives Regarding Quality of Life in Chronically ill and Healthy Individuals

The areas that were suggested as most important with regard to Quality of Life (QoL) were examined in groups of individuals who were healthy, and those with a chronic condition. An electronic survey was completed by 892 participants (261 healthy and 631 with a chronic condition). They answered three questions relating to QoL: what is most important to you; what areas most impact your QoL; and an open question what does QoL mean to you. Across the three questions both groups highlighted physical functioning, independence and mobility as key areas for QoL. However, the group with a chronic condition tended to find issues of functioning such as pain, fatigue, and sleep as more important to their QoL than the healthy participants. In contrast, the healthy participants tended to note the importance of relationships and family as more important than the group with a chronic condition. That there were such differences between the groups might suggest that different aspects of QoL could be rated as more important when examining this issue with samples with a chronic condition and those without such a condition.     

Genderqueer: One Family’s Experience with Gender Variance

Accounts of the experiences of gender variant individuals that have recently received attention in the popular and psychoanalytic literature have led to an increased appreciation for the complex nature of identity; gender development; and the interaction of mind, body, and the social environment. Although there is still a great deal to be learned about the developmental trajectories of transgender identities that fall within what is a more familiar, male/female binary-based landscape, even less is known about developmental pathways for individuals whose gender identities remain neither comfortably male nor female. In this article, we present selected episodes reflecting our experiences as a family, drawn from over a 25-year period in which a gender variant individual, along with the rest of us, grew up. We tell this story—our family’s story—to better understand what we have been through and learned, to help other families going through similar experiences, and as a thought-piece to clinicians and students of gender. The result is both a narrative and a meditation on the nature of gender identity and gender development.     

The development of adaptive conformity in young children: effects of uncertainty and consensus

Human culture relies on extensive use of social transmission, which must be integrated with independently acquired (i.e. asocial) information for effective decision‐making. Formal evolutionary theory predicts that natural selection should favor adaptive learning strategies, including a bias to copy when uncertain, and a bias to disproportionately copy the majority (known as ‘conformist transmission’). Although the function and causation of these evolved strategies has been comparatively well studied, little is known of their development. We experimentally investigated the development of the bias to copy‐when‐uncertain and conformist transmission in children from the ages of 3 to 7, testing predictions derived from theoretical models. Children first attempted to solve a binary‐choice quantity discrimination task themselves using asocial information, but were then given the decisions of informants, and an opportunity to revise their answer. We investigated whether children's revised judgments were adaptively contingent on (i) the difficulty of the trial and (ii) the degree of consensus amongst informants. As predicted, older but not younger children copied others more on more difficult trials than on easier trials, even though older children also showed a tendency to stick with their initial, asocial decision. We also found that older children, like adults, were disproportionately receptive to non‐total majorities (i.e. were conformist) whereas younger children were receptive only to total (i.e. unanimous) majorities. We conclude that, whilst the mechanism for incorporating social information into decision‐making is initially very blunt, across the course of early childhood it converges on the adaptive learning mechanisms observed in adults and predicted by cultural evolutionary theory. A video abstract of this article can be viewed at http://youtu.be/Qb6JINGYqVk     

The lasting effects of process‐specific versus stimulus‐specific learning during infancy

The capacity to tell the difference between two faces within an infrequently experienced face group (e.g. other species, other race) declines from 6 to 9 months of age unless infants learn to match these faces with individual‐level names. Similarly, the use of individual‐level labels can also facilitate differentiation of a group of non‐face objects (strollers). This early learning leads to increased neural specialization for previously unfamiliar face or object groups. The current investigation aimed to determine whether early conceptual learning between 6 and 9 months leads to sustained behavioral advantages and neural changes in these same children at 4–6 years of age. Results suggest that relative to a control group of children with no previous training and to children with infant category‐level naming experience, children with early individual‐level training exhibited faster response times to human faces. Further, individual‐level training with a face group – but not an object group – led to more adult‐like neural responses for human faces. These results suggest that early individual‐level learning results in long‐lasting process‐specific effects, which benefit categories that continue to be perceived and recognized at the individual level (e.g. human faces).