"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.

As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have surfaced. Despite the importance of informed consent, little is known about the specific challenges that professionals encounter when consenting patients or research participants for genomic sequencing. We interviewed 29 genetic counselors and research coordinators with considerable experience obtaining informed consent for genomic sequencing to understand their experiences and perspectives. As part of this interview, 24 interviewees discussed an informed consent case they found particularly memorable or challenging. We analyzed these case examples to determine the primary issue or challenge represented by each case. Challenges fell into two domains: participant understanding, and facilitating decisions about testing or research participation. Challenges related to participant understanding included varying levels of general and genomic literacy, difficulty managing participant expectations, and contextual factors that impeded participant understanding. Challenges related to facilitating decision-making included complicated family dynamics such as disagreement or coercion, situations in which it was unclear whether sequencing research would be a good use of participant time or resources, and situations in which the professional experienced disagreement or discomfort with participant decisions. The issues highlighted in these case examples are instructive in preparing genetics professionals to obtain informed consent for genomic sequencing.

Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results.

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.

Experiences with obtaining informed consent for genomic sequencing.

Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants' common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/participants' unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent.

Use of the intrauterine device among adolescent and young adult women in the United States from 2002 to 2010.

PURPOSE: Long-acting contraceptives, such as the intrauterine device (IUD), show potential for decreasing the incidence of unintended pregnancy. However, use among adolescent and young adult women remains low. We determined factors associated with IUD use among young women. METHODS: We conducted an analysis of nationally representative, cross-sectional data from the 2002 and 2006-2010 National Surveys of Family Growth. We included sexually active women 15-24 years old. We used bivariate analysis to compare proportions of ever-use of any type of IUD in 2002 and in 2006-2010 and multivariable logistic regression to identify correlates of ever-use in 2006-2010. RESULTS: We found an increase in IUD use in teens 15-19 years old, from .2% to 2.5% (p < .001), and among women 20-24 years old, 2.0% to 5.4% (p < .001). Use increased among nearly all subgroups of respondents. Compared with nulliparous young women, those with one prior delivery and with two or more deliveries were substantially more likely to have used an IUD (adjusted OR 11.43, 95% CI 3.61-36.16, and adjusted OR 13.60, 95% CI 4-46.48, respectively). Young black women were less likely to report IUD use (adjusted OR .32, 95% CI .16-.66), and women whose mothers received at least a high school education were more likely to report use (adjusted OR 2.56, 95% CI 1.22-5.43). CONCLUSIONS: IUD use is increasing among adolescent and young adult women overall and among almost all sociodemographic subgroups. Nonetheless, use remains low, and nulliparous young women are highly unlikely to use the IUD.