Whether, when, and how to communicate genetic risk to minors: 'I wanted more information but I think they were scared I couldn't handle it'.

Genetic test results are often relevant not only to persons tested, but also to their children. Questions of whether, when, and how to disclose parental test results to children, particularly minors, can be difficult for parents to navigate. Currently, limited data are available on these questions from the perspective of minors. In this qualitative study, semi-structured interviews were conducted with parents affected by or at risk for hereditary cancer (N = 17) or Huntington's disease (N = 14) and their mature minor children aged 15-17 (N = 34). Parents and mature minors were interviewed separately. Genetic counselors (GCs; N = 19) were also interviewed. Most parents interviewed wanted to protect minors from genetic risk information (GRI) and feared minors would not be able to handle GRI. However, most mature minors reported they did not receive enough information and wished their parent was more forthcoming. Parents recommended taking time to process one's own test results before communicating with minors, and mature minors recommended parents communicate GRI in an honest, hopeful way. Most parents and GCs felt additional resources on communicating with minors about GRI and various genetic conditions are needed. This study includes the experiences and perspectives of a well-informed cohort, and results should be taken into careful consideration by parents, GCs, and others who are faced with communicating GRI to minors.

Patient reactions to receiving negative genomic screening results by mail.

PURPOSE: As genomic screening is incorporated into a wider array of clinical settings, it is critical that we understand how patients may respond to a various screening results. Although multiple studies have examined how patients understand positive genomic screening results, few data exist regarding patient engagement with negative screening results. METHODS: An 82-item survey was administered to 1712 individuals who received negative genomic screening results by mail following evaluation of 109 medically actionable genes. Genetic counselors were available to assist with the interpretation of screening results. RESULTS: One thousand four hundred forty-two participants completed the survey (84.2%). The vast majority of respondents valued the information they received, with 98% of respondents reporting that negative genomic screening results were valuable and 72% indicating they would recommend genomic screening to others. Nonetheless, many respondents had questions about their genomic screening results (28%) and would have preferred to receive their screening results in person (18%). CONCLUSION: These data suggest most patients value receiving negative genomic screening results and are comfortable receiving their results by mail. Nevertheless, a significant proportion of patients also reported difficulty understanding some aspects of their results. This finding challenges the idea that communicating genomic screening results by mail alone is sufficient to meet patients' needs.

Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results.

BACKGROUND: Communicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk they do not wish to know or discuss. Communication about the decision to pursue testing and test results are especially sensitive in Huntington's disease (HD), where individuals often feel strongly about either knowing or not knowing their genetic status. OBJECTIVE: To examine family communication patterns of genetic risk, the decision to pursue testing, and test results not just years, but decades after testing for HD, and examine how family communication of genetic risk information affects family relationships over the long-term. METHODS: In this qualitative study, 39 semi-structured interviews were conducted with probands who went through genetic testing for HD. Clinic notes from these individuals were also analyzed. RESULTS: Family communication patterns varied based on relation (e.g., significant others, child, extended family) and were influenced by a variety of factors. Sharing with spouses and children had a positive influence on the relationship in most cases. Sharing with extended family members had varying effects on relationships. Negative effects were more likely when family members were in denial, had not pursued testing for themselves, or did not support testing. CONCLUSION: Communication to significant others and children, should be discussed with and supported in individuals seeking testing for HD, but for extended family members, potential effects on the relationship, emotional distress, and benefits should be discussed and weighed.

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.

A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.

Neutral, Negative, or Negligible? Changes in Patient Perceptions of Disease Risk Following Receipt of a Negative Genomic Screening Result.

Most individuals who undergo genomic screening will receive negative results or results not sufficient to warrant a clinical response. Even though a majority of individuals receive negative results, little is known about how negative results may impact individuals' perception of disease risk. Changes in risk perception (specifically reductions in perceived risk) may affect both probands and their family members if inaccurate information is communicated to family members. We surveyed patients who received negative results as part of their participation in a genomic screening study and assessed their perceptions of disease risk following receipt of results. Participants had either hyperlipidemia or colon polyps (or both) and received their negative genomic screening results by mail. Of 1712 total individuals recruited, 1442 completed the survey (84.2% completion rate). Approximately one quarter of individuals believed their risk for heart disease to be lower and approximately one third of individuals believed their risk for colon cancer to be lower after receiving and evaluating their negative genomic screening result. 78% of those who believed their risk for one or both diseases had declined had already shared or intended to share their result with family members. Our study suggests patients may interpret a negative genomic screening result as implying a reduction in their overall disease risk.

Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.

BACKGROUND: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. METHODS: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. RESULTS: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. CONCLUSIONS: The data suggest that individuals' RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.