In 2% to 3% of cases, prenatal microarray testing detects deletions and duplications in a fetus' genome that are undetected by conventional cytogenetics. Many of these changes are associated with variable or uncertain symptomatology. Little is known about how couples experience uncertain results. This study analyzed 24 interviews with members of 12 heterosexual U.S. couples who received pathogenic or uncertain microarray prenatal testing results. Researchers used narrative analysis to examine couples' understanding and incorporation of findings into decision making regarding pregnancy termination. Couples felt unprepared for these findings and frustrated because scant information was available to aid interpretation. Women sought information and made decisions, and men marginalized their distress to support their wives. A shift in voice from first to second person indicated attempts to normalize emotional responses by making the process "common" to all couples. Families pursuing highly sensitive prenatal testing may need expert guidance to support decision making.

Increasingly, 18-24-year-old women from hereditary breast/ovarian cancer (HBOC) families are pursuing genetic testing, despite their low absolute risks of breast and ovarian cancer and the fact that evidence-based management options used with older high-risk women are not generally available. Difficult clinical decisions in older carriers take on substantially more complexity and value-laden import in very young carriers. As a result, many of the latter receive highly personal and emotionally charged cancer risk information in a life context where management strategies are not well defined. We analyzed 32 in-depth interviews with BRCA1/2 mutation-positive women aged 18-24 using techniques of grounded theory and interpretive description. Participants described feeling vulnerable to a cancer diagnosis but in a quandary regarding their care because evidence-based approaches to management have not been developed and clinical trials have not been undertaken. Our participants demonstrated a wide range of genetic and health literacy. Inconsistent recommendations, surveillance fatigue, and the unpredictability of their having health insurance coverage for surgical risk-reducing procedures led several to contemplate risk-reducing mastectomy before age 25. Parents remained a primary source of emotional and financial support, slowing age-appropriate independence and complicating patient privacy. Our findings suggest that, for 18-24-year-olds, readiness to autonomously elect genetic testing, to fully understand and act on genetic information, and to confidently make decisions with life-long implications are all evolving processes. We comment on the tensions between informed consent, privacy, and the unique developmental needs of BRCA1/2 mutation-positive women just emerging into their adult years.

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

Genetic testing for hereditary breast and ovarian cancer (HBOC) is predictive, not prophetic. Families frequently rely on multigenerational stories to make sense of the inherent ambiguity as they face medical decisions and navigate life's journeys. This study asks young women with elevated genetic risk how family histories with cancer and experiences with health professionals inform their beliefs about risk and susceptibility to HBOC. Twenty-two women aged 22-36 who carry a BRCA mutation completed illness genograms and open-ended interviews. Transcripts were analyzed using a narrative tool that emphasizes the use of voice to highlight key relationships and meaning structures. Findings reveal that beliefs about risk are more firmly grounded in family experiences with cancer than in biomedical research. Pervasive meanings included (1) the presence of "danger zones," specific ages at which cancer risk was believed to increase dramatically, and (2) the experience of "the wait and the worry," in which participants felt increased urgency to achieve family development goals (i.e., child bearing) and limited control over environmental factors influencing when these goals could be met (i.e., meeting a life partner). A clinical case example and research implications are discussed.

In the era of managed care, evidence-based practice, and short term, solution focused interventions, clinicians in agency based settings generally do not have the luxury of long-term contact with bereaved children. Although a substantial, yet controversial, literature argues that children cannot fully resolve early loss until adulthood, limited attention is given to how children's understandings of early loss shift as their cognitive capacities mature. This article argues the emotional experience of grief shifts: 1) as children grapple with both normative life changes and the tasks of mourning, and 2) as their cognitive and emotional development allow them to understand and question aspects of their deceased parent's life and death in new ways. This article will present an overview of longitudinal and cross-sectional research on the long-term impact of childhood grief. We then suggest the ways bereaved children and adolescents revisit and reintegrate the loss of a parent as their emotional, moral, and cognitive capacities mature and as normative ego-centrism and magical thinking decline. To demonstrate these ideas, we draw on the case of a parentally bereaved boy and his family presenting across agency-based and private-practice work over the course of 14 years. This case suggests the need for coordinated care for children who are moving beyond the initial trauma of parental loss into various stages of grief and reintegration. While the loss of a parent is permanent and unchanging, the process is not: it is part of the child's ongoing experience. (Worden, 1996, p. 16).

Empirical and clinical literature suggests a temporal thread running through family narratives of hereditary disease, linking past experiences to current beliefs about risk. This study asked young women with elevated risk of developing hereditary breast or ovarian cancer (HBOC) how their family histories with cancer and their gene status inform meaning construction around cancer risk and family development. Twenty-three women aged 22-35 who carry a BRCA gene alteration completed illness genograms and open-ended, narrative interviews. Transcripts were analyzed using the Listening Guide, a narrative tool that emphasizes key themes, meanings, and relational structures. Data analysis revealed distinct priorities for (1) single versus partnered women and (2) women who wished to have children versus those who had completed childbearing or were not intending to have children. Findings suggest single women experience increased urgency at finding a life partner capable of handling the emotional strain of the cancer world and open to pursuing multiple paths toward parenthood. Further, participants' family experiences shaped beliefs about perceived time to achieve desired family goals, specifically having biological children, before a cancer diagnosis or the need for preventive surgery. Clinical practice and research implications are discussed.

Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes. Most respondents reported their infants were developing typically. The majority expressed concern about their child's future development given the CNV. They reassured themselves their child was unaffected by: comparing him/her to siblings, scrutinizing the child's appearance and behavior, or following provider reassurances. Even without developmental and neurological concerns, some remained acutely observant of their child's neurocognitive development, leading to enrollment in early intervention or ongoing medical assessments. Mothers who were unconcerned stated they would likely attribute atypical behavior or developmental to the CNV. All interviewees shared the result with pediatricians, relatives, or friends, and many shared across groups. Most shared information with pregnant friends considering prenatal testing, but withheld partial or full information from family members due to stigma, lack of understanding, inability to explain the CNV, or presumptions that the child was unaffected. Research must address the long-term consequences of returning uncertain results for parent-child bonding and costs of ongoing assessment and early intervention for typically developing children. Follow up appointments will permit providers to screen for anxiety and assuage worry in the absence of symptoms. © 2016 Wiley Periodicals, Inc.

This qualitative investigation aims to identify the salient support concerns of young women with BRCA mutations, a frequently understudied population with unique developmental, psychosocial, and family needs. Twenty-three unaffected BRCA gene alteration carriers aged 21 to 36 completed illness genograms and open-ended interviews. Transcripts were analyzed using the Listening Guide to highlight key themes, relationships, and meaning structures. Results reveal existing social support networks composed of family, partners, friends, and coworkers are often inadequate and formal services unavailable or underutilized. These findings suggest an important role for clinicians in reducing isolation, bolstering existing support networks, and designing innovative, targeted interventions that address the challenges specific to this age group. Interventions, such as the multifamily support group, should be integrated into genetic counseling protocols to mitigate the risk of distress.