Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.

The COVID-19 pandemic required genetic counseling services, like most outpatient healthcare, to rapidly adopt a telemedicine model. Understanding the trends in patients' preferences for telemedicine relative to in-person service delivery both before and after the advent of the COVID-19 pandemic may aid in navigating how best to integrate telemedicine in a post-COVID-19 era. Our study explored how respondents' willingness to use, and preference for, telemedicine differed from before to after the onset of the COVID-19 pandemic. Respondents included patients, or their parent/guardian, seen in a general medical genetics clinic in 2018, prior to the COVID-19 pandemic, and in 2021, during the COVID-19 pandemic. Respondents were surveyed regarding their willingness to use telemedicine, preference for telemedicine relative to in-person care, and the influence of various factors. Among 69 pre-COVID-19 and 40 current-COVID-19 respondents, there was no shift in willingness to use, or preference for, telemedicine across these time periods. About half of respondents (50.6%) preferred telemedicine visits for the future. Of the 49.4% who preferred in-person visits, 79.1% were still willing to have visits via telemedicine. Predictors of these preferences included comfort with technology and prioritization of convenience of location. This study suggests that a hybrid care model, utilizing telemedicine and in-person service delivery, may be most appropriate to meet the needs of the diverse patients served. Concern for COVID-19 was not found to predict willingness or preference, suggesting that our findings may be generalizable in post-pandemic contexts.

Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.

Improvements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted with parents (n = 15) whose children received a VUS from genetic testing in either the pediatric neurogenetics or developmental pediatrics clinics at Riley Hospital for Children in Indianapolis, Indiana. Most participants expressed understanding of the uncertainty surrounding their child's VUS test result. However, nearly half of participants shared that they had no prior knowledge of its potential reclassification. When asked whose responsibility it is to keep informed about changes to their child's VUS status, some participants stated that it belonged solely to healthcare providers - a distinctive finding of our study - whereas others felt that it was a joint responsibility between providers and the parents. We additionally found that some patients desire a support group for individuals with VUS. These results provide insight into the importance of pretest genetic counseling and the need for increased social and informational support for parents of children who receive inconclusive genetic testing results. We conclude that relying solely on the patient or guardian to manage uncertain results may be insufficient.

An update to returning genetic research results to individuals: perspectives of the industry pharmacogenomics working group.

The ease with which genotyping technologies generate tremendous amounts of data on research participants has been well chronicled, a feat that continues to become both faster and cheaper to perform. In parallel to these advances come additional ethical considerations and debates, one of which centers on providing individual research results and incidental findings back to research participants taking part in genetic research efforts. In 2006 the Industry Pharmacogenomics Working Group (I-PWG) offered some 'Points-to-Consider' on this topic within the context of the drug development process from those who are affiliated to pharmaceutical companies. Today many of these points remain applicable to the discussion but will be expanded upon in this updated viewpoint from the I-PWG. The exploratory nature of pharmacogenomic work in the pharmaceutical industry is discussed to provide context for why these results typically are not best suited for return. Operational challenges unique to this industry which cause barriers to returning this information are also explained.

The use of role-play to enhance medical student understanding of genetic counseling.

PURPOSE: Advances in genetics have meant that genetic testing will become increasingly relevant to all health care fields. It is therefore important that all physicians have increased genetic education in their training, including in the medical school curriculum. METHODS: To address this need, we used role-playing in an effort to enhance understanding of genetic counseling. Students were given the option of participating in a mock genetic counseling session whereby they would play the role of a patient receiving genetic test results. All students received questionnaires on their attitudes and knowledge about genetic counseling. Those who participated answered additional questions regarding effectiveness of the project. RESULTS: Of 88 students who returned presimulation questionnaires, 19 opted to participate in the mock session, and 15 participants returned postsimulation questionnaires. There was no significant difference between participant and nonparticipant questionnaire responses. However, all participants agreed that role-play was effective in helping them understand genetic counseling and testing. Most participants also commented that the session helped them understand the importance of referral for genetic counseling and the impact of test results. CONCLUSIONS: The project proved overall valuable in improving medical student understanding of genetic counseling and may be applied to a variety of medical education settings to improve patient care.

Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.

While only a small proportion of cancers can be attributed to a hereditary susceptibility, identifying high-risk individuals plays an essential role in medical management and has a significant impact on the patient as well as their immediate and extended family members. This paper aims at increasing the medical professionals' knowledge of the components of a genetic counseling session, with particular attention toward identifying at-risk individuals and understanding the complexities of the testing process. In addition, tools are provided to assist in identifying these individuals in clinical practice and streamlining the referral process to a cancer genetics center.

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth.Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management.

The use of genetic testing in the evaluation of hearing impairment in a child.

PURPOSE OF REVIEW: To review the role of genetic testing in the evaluation of hearing impairment in children. RECENT FINDINGS: The introduction of genetic testing has greatly enhanced the evaluation of deafness and hearing impairment in children. It can save time and money as well as providing patients, their families, and their physicians with important information; however, this testing is different from the medical testing that pediatricians typically order. SUMMARY: For patients and families to realize the benefits of genetic testing it must be done early in the evaluation process and must be accompanied by appropriate pretest and posttest counseling.

Fate maps of neural crest and mesoderm in the mammalian eye.

PURPOSE: Structures derived from periocular mesenchyme arise by complex interactions between neural crest and mesoderm. Defects in development or function of structures derived from periocular mesenchyme result in debilitating vision loss, including glaucoma. The determination of long-term fates for neural crest and mesoderm in mammals has been inhibited by the lack of suitable marking systems. In the present study, the first long-term fate maps are presented for neural crest and mesoderm in a mammalian eye. METHODS: Complementary binary genetic approaches were used to mark indelibly the neural crest and mesoderm in the developing eye. Component one is a transgene expressing Cre recombinase under the control of an appropriate tissue-specific promoter. The second component is the conditional Cre reporter R26R, which is activated by the Cre recombinase expressed from the transgene. Lineage-marked cells were counterstained for expression of key transcription factors. RESULTS: The results established that fates of neural crest and mesoderm in mice were similar to but not identical with those in birds. They also showed that five early transcription factor genes are expressed in unique patterns in fate-marked neural crest and mesoderm during early ocular development. CONCLUSIONS: The data provide essential new information toward understanding the complex interactions required for normal development and function of the mammalian eye. The results also underscore the importance of confirming neural crest and mesoderm fates in a model mammalian system. The complementary systems used in this study should be useful for studying the respective cell fates in other organ systems.