Transfer of embryos with positive PGT-M results: Genetic Counselors' perspectives and ethical considerations.

Increasing numbers of fertility patients use preimplantation genetic testing for monogenic conditions (PGT-M) during in vitro fertilization (IVF). While PGT-M is primarily used to avoid implanting embryos with a monogenic condition, patients can request to transfer an embryo with the monogenic condition (positive embryo transfer), especially in cases where an IVF cycle results in no unaffected embryos. Transferring embryos with known disease-causing variants raises ethical concerns. There is limited understanding about how stakeholders in the assisted reproductive technology (ART) field approach these issues. In this study, genetic counselors were sent a survey to gather insight into their views about transferring embryos with different monogenic conditions. N = 99 genetic counselors completed the survey, 22 of whom had experience with patients requesting or deciding to transfer an embryo with a monogenic condition (positive embryo transfer experience). Most participants, including those with positive embryo transfer experience, were supportive of positive embryo transfer, regardless of the genetic condition. While participating genetic counselors were largely supportive of all patient decisions, they reported increased moral uneasiness around transferring embryos with life-limiting monogenic conditions, such as Huntington's disease. Further investigation into the experiences of genetic counselors who have experienced positive embryo transfer requests in practice can help delineate the ethical questions that ART providers face in this context and clarify how genetic counselors can contribute to establishing guidelines in the ART field.

Perceptions and Attitudes Toward Genetic Counselors and Genetic Testing Among Certified Professional Midwives in Vermont: A Modified Grounded Theory Study.

Increasingly, pregnant people in the United States are choosing to give at birth at home, and certified professional midwives (CPMs) often attend these births. Care by midwives, including home birth midwives, has the potential to decrease unnecessary medical interventions and their associated health care costs, as well as to improve maternal satisfaction with care. However, lack of integration into the health care system affects the ability of CPMs to access standard medications and testing for their clients, including prenatal screening. Genetics and genomics are now a routine part of prenatal screening, and genetic testing can contribute to identifying candidates for planned home birth. However, research on genetics and midwifery care has not, to date, included the subset of midwives who attend the majority of planned home births, CPMs. The purpose of this study was to examine CPMs' access to, and perspectives on, one aspect of prenatal care, genetic counselors and genetic counseling services. Using semi-structured interviews and a modified grounded theory approach to narrative analysis, we identified three key themes: (1) systems-level issues with accessing information about genetic counseling and genetic testing; (2) practice-level patterns in information delivery and self-awareness about knowledge limitations; and (3) client-level concerns about the value of genetic testing relative to difficulties with access and stress caused by the information. The results of this study can be used to develop decision aids that include information about genetic testing and genetic counseling access for pregnant people intending home births in the United States.

Multifactorial causal beliefs and colorectal cancer screening: A structural equation modeling investigation.

We tested a conceptual model that describes the relationship between individuals' understanding of the multifactorial nature of cancer and their self-reported colorectal cancer screening. We collected cross-sectional survey data from 205 men and women age 50-75. Data were analyzed using structural equation modeling. The proposed model had reasonable fit (RMSEA = 0.09, CFI = 0.65). Multifactorial causal beliefs were associated with cancer risk perceptions (ß = 0.16, p = 0.019) and more optimistic cancer cognitions (ß = 0.17, p = 0.013). However, these constructs were not associated with colorectal cancer screening (p's > 0.05). Further testing could reveal whether this model can be applied to other cancer-related health behaviors including lifestyle changes and genetic testing.

Unplanned Cesarean Birth: Can the Quality of Consent Affect Birth Experiences?

BACKGROUND: Unplanned cesarean birth is associated with high levels of patient dissatisfaction and negative birth experiences, which in turn can negatively impact birth outcomes. Previous research has demonstrated that issues of physician-patient communication, mistrust, fear of the operating room (OR), and loss of control contribute to patient dissatisfaction with unplanned cesarean birth. We hypothesized that altering the nature and structure of the informed consent prior to the surgery might improve patient satisfaction and birth experience. Specifically, we explored whether educating resident physicians in counseling skills could shift the focus of informed consent from a checklist merely informing the patient of the risks, benefits, and alternatives to a discussion that informs the physician of the patient's concerns and fears. By approaching consent in this manner, the goal of informed consent expands beyond autonomy rights to include beneficence as well. Methods: Residents received education to discuss issues of communication, fear, mistrust, and loss of control when seeking consent for an unplanned cesarean birth. Patients were randomized to receive either additional counseling that encouraged a discussion or a standard informed consent for cesarean birth. Participants were interviewed two weeks later and scored their satisfaction using a Likert scale on the four themes: communication, mistrust, fear of OR, and loss of control. Results: Both groups had very high patient satisfaction scores; there was no statistical difference between them. Conclusions: Both groups exhibited significantly higher levels of birth satisfaction than present in prior research. Training residents to discuss these issues while seeking consent for an unplanned cesarean birth may have improved patient satisfaction for all participants in this study. This suggests that educating residents to engage patients in a dialogue during informed consent counseling is more important than a specific script.

The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.

Consumer access to third-party services to interpret raw DNA has raised concerns about downstream healthcare implications. This mixed-methods study set out to examine the extent to which genetic counselors have been contacted by consumers of third-party services and describe counselors' experiences with these "consumer" patients. Counselor views on the quality of information provided to consumers were also examined. Eighty-five genetic counselors completed an online survey, of which 22 completed in-depth telephone interviews. Survey and interview data were analyzed and combined using triangulation techniques. Over half (53%) of the survey respondents indicated they had been contacted by a patient following the use of a third-party raw DNA interpretation service. Among counselors contacted, 72% saw at least one patient. Counselors reported challenges unique to this patient population including overemphasis by patients on the validity of the data and patient resistance to information provided by the counselor. Preparation time burden and counselor inexperience and discomfort counseling these patients were additional challenges. Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Genetic counselors' experiences with consumer's use of third-party DNA interpretation services provide insight on the opportunities and challenges with the availability of raw DNA directly to consumers. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health.

The case against cesarean delivery on maternal request in labor.

The ethical obligations of an obstetrician to a patient who requests a cesarean delivery without maternal or fetal indication differ depending on whether the request is made before or during labor. Informed consent is an essential dimension of respecting patient autonomy, and the process of informed consent should be extensive for a cesarean delivery in the absence of maternal or fetal indications during active labor. For this reason, physicians should rarely grant a request for cesarean delivery made during active labor. Although physicians may think that declining a request for cesarean delivery is a violation of patient autonomy, they should also be concerned about the violation of patient autonomy that results if they are unable to adequately complete the process of informed consent during labor.