Prenatal patient perceptions of receiving difficult news over the telephone.

Difficult news has been described as any news that adversely and seriously affects an individual's view of their future. Research in oncology genetic counseling demonstrated that individuals do not prefer in-person or telephone delivery of their genetic test results. However, in the prenatal setting, there is limited research examining how patients prefer news related to their pregnancies be disclosed. This study aimed to assess the experiences and preferences of prenatal patients who received difficult news by telephone. A semi-structured interview guide was developed to assess patients' personal definitions of difficult news and their experiences receiving the news by telephone. Fifteen patients seen prenatally by a genetic counselor were interviewed. Interviews were transcribed and consensus-coded, using inductive content analysis to identify several themes. The most common definition of difficult news included unexpected, life-changing, or devastating information. Participants described aspects of their experience and strategies employed by their genetic counselor that was helpful when receiving the news, which was found to align with the SPIKES protocol, a six-step process of delivering difficult news to patients. Additional techniques that participants identified as beneficial and satisfactory included the genetic counselor's use of empathy, non-directiveness, and continuity and coordination of care. Participants also provided recommendations for improvement, including a discussion of the mode of result disclosure during pretest counseling, an option to follow up with their genetic counselor, personalized resources, and a summary of the results call. The findings of this study demonstrate that a patient-centered approach is preferred by patients who receive difficult news by telephone in the prenatal setting. Patients' identification of beneficial communication techniques and suggestions for improvement can be implemented by any healthcare provider responsible for delivering difficult news to prenatal patients.

Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing.

INTRODUCTION: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers' personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American consumers. METHODS: Twenty semi-structured, qualitative interviews were held with individuals who self-identified as Black/African-American and completed DTC GT between February 2017 and February 2020. Interviews were transcribed and consensus-coded, using inductive content analysis. RESULTS: Participants generally had positive regard for DTC GT. When considering secondary uses of their results or samples, most participants were aware this was a possibility but had little concrete knowledge about company practices. When prompted about potential uses, participants were generally comfortable with research uses but had mixed outlooks on other nonresearch uses such as law enforcement, cloning, and product development. Most participants expressed that consent should be required for any secondary use, with the option to opt out. The most common suggestion for companies was to improve transparency. Compared to European American participants, African-American participants expressed more trust in DTC GT companies compared to healthcare providers, more concerns about law enforcement uses of data, and a stronger expression of community considerations. DISCUSSION/CONCLUSION: This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities' use of data and more reference to community engagement.

Factors associated with US and Canadian genetic counselors' testing decisions during pregnancy.

Decision-making regarding prenatal screening and diagnostic testing has become more complex as the number of options has increased, with pregnant patients having access to more information about their pregnancies than ever before. Genetic counselors have extensive training in prenatal genetic screening and testing options, but personal decision-making in this well-informed population remains largely unstudied. This study describes the prenatal testing decisions genetic counselors made during their own pregnancies, and the factors identified as important when making those decisions. A web-based, mixed-methods survey was distributed to members of multiple professional societies for genetic counselors. A total of 318 genetic counselors across numerous specialties in the United States and Canada participated in this study. The satisfaction with decision scale was modified and applied to measure participants' decisional satisfaction. In their most recent pregnancies, most genetic counselors pursued carrier screening (77%) and aneuploidy and/or open neural tube defect screening (88%). A minority of genetic counselors (15%) utilized diagnostic testing. Common factors considered when making testing decisions included wanting information that could impact future decisions, test specifics (e.g., accuracy, methodology, and content), and knowledge gained from participants' genetic counseling background. The uptake of diagnostic testing among prenatal genetic counselors was significantly greater (p < 0.05) than the uptake among genetic counselors in other specialties. This informed study population largely self-directed their own prenatal care, leading to high satisfaction with their decisions. Data in this study provide evidence for promoting participation in prenatal screening and testing decision-making to maximize decisional satisfaction.

Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?

INTRODUCTION: Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results. OBJECTIVE: The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy. METHODS: Twenty DTC GT customers were interviewed about their experiences. The semi-structured interviews were transcribed, coded, and analyzed for common themes. RESULTS: Most participants were aware of some secondary uses of data. All participants felt that data usage for research was acceptable, but acceptability for non-research purposes varied across participants. The majority of participants were aware of the existence of a privacy policy, but few read the majority of the privacy statement. When previously unconsidered uses of data were discussed, some participants expressed concern over privacy protections for their data. CONCLUSION: When exposed to new information on secondary uses of data, customers express concerns and a desire to improve consent with transparency, more opt-out options, improved readability, and more information on future uses and potential risks from direct-to-consumer companies. Effective ways to improve readership about the secondary use, risk of use, and protection of customer data should be investigated and the findings implemented by DTC companies to protect public trust in these practices.

Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity.

Methyl-CpG-binding domain 1 (MBD1) belongs to a family of methyl-CpG-binding proteins that are epigenetic "readers" linking DNA methylation to transcriptional regulation. MBD1 is expressed in neural stem cells residing in the dentate gyrus of the adult hippocampus (aNSCs) and MBD1 deficiency leads to reduced neuronal differentiation, impaired neurogenesis, learning deficits, and autism-like behaviors in mice; however, the precise function of MBD1 in aNSCs remains unexplored. Here, we show that MBD1 is important for maintaining the integrity and stemness of NSCs, which is critical for their ability to generate neurons. MBD1 deficiency leads to the accumulation of undifferentiated NSCs and impaired transition into the neuronal lineage. Transcriptome analysis of neural stem and progenitor cells isolated directly from the dentate gyrus of MBD1 mutant (KO) and WT mice showed that gene sets related to cell differentiation, particularly astrocyte lineage genes, were upregulated in KO cells. We further demonstrated that, in NSCs, MBD1 binds and represses directly specific genes associated with differentiation. Our results suggest that MBD1 maintains the multipotency of NSCs by restraining the onset of differentiation genes and that untimely expression of these genes in MBD1-deficient stem cells may interfere with normal cell lineage commitment and cause the accumulation of undifferentiated cells. Our data reveal a novel role for MBD1 in stem cell maintenance and provide insight into how epigenetic regulation contributes to adult neurogenesis and the potential impact of its dysregulation. SIGNIFICANCE STATEMENT: Adult neural stem cells (aNSCs) in the hippocampus self-renew and generate neurons throughout life. We show that methyl-CpG-binding domain 1 (MBD1), a DNA methylation "reader," is important for maintaining the integrity of NSCs, which is critical for their neurogenic potency. Our data reveal a novel role for MBD1 in stem cell maintenance and provide insight into how epigenetic regulation preserves the multipotency of stem cells for subsequent differentiation.