Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions.

For genetic counselors to effectively meet the needs of an ever-diversifying multicultural patient population, it is vital that their genetic counseling programs (GCPs) equip future genetic counselors to recognize the impact of a patient's ethnocultural background on clinical interactions (Towards a culturally competent system of care: A monograph on effective services for minority children who are severely emotionally disturbed (p. 28). CASSP Technical Assistance Center, Georgetown University Child Development Center, 1989). Concerns about genetic counseling cultural competency training (CCT) including content and delivery have been brought up by GCP students who identify as racial and ethnic minorities (Journal of Genetic Counseling, 29, 303-314). Though GCPs must meet the Accreditation Council of Genetic Counselors' (ACGC) accreditation criteria, there is a gap in knowledge regarding the focus, type, and methods of delivery that GCPs have chosen to incorporate into their CCT, as ACGC does not dictate the exact focus, delivery, or format of training curricula. This quantitative study aimed to (1) characterize the current focus, type, and delivery of ethnocultural competency training in GCPs as perceived by second-year genetic counseling students and recent graduates and (2) highlight their perception of its impact on their levels of preparedness and comfort when interacting with ethnoculturally diverse patients. One hundred and one survey responses were analyzed using descriptive statistics, chi-square analyses, two-sample Wilcoxon rank-sum, and Fisher's exact tests. The results reveal significant variability in the format, type, and delivery of CCT provided by GCPs. Participants perceive that CCT focusing on specific traditions, medical considerations, and systemic healthcare disparities (taught to 74%, 61%, and 94% of students, respectively) related to ethnoculturally diverse patients was more likely to increase their self-reported levels of preparedness and comfort for clinical interactions than training focused on racial or ethnic stereotypes and generalizations (taught to 88% of students). Although 94% of participants perceived their CCT as helpful, 61% reported they received an insufficient amount. In light of these results, we provide suggestions for the improvement of ethnocultural CCT and highlight future opportunities for more intentional and fruitful CCT in GCPs.

Prenatal genetic counseling practices regarding recommendations for cancer genetic counseling: A retrospective chart review from two academic institutions.

Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made. A retrospective chart review and pedigree analysis were performed for prenatal/preconception genetic counseling patients with a family history of cancer seen at two academic institutions between August 10, 2019, and December 1, 2019. In the 170 charts included, a recommendation for cancer genetic counseling was documented in 40% of all genetic counseling summaries and in 59.2% of summaries when NCCN genetic testing criteria for HBOC and/or Lynch syndrome was met. Using chi-squared and logistic regression analysis, these data support that individuals were significantly more likely to receive a recommendation when NCCN genetic testing criteria were met (OR = 5.01, p < .001) or when the family history contained two or more types of cancer (OR = 2.24, p = .02). Overall, this study identified the NCCN genetic testing criteria for HBOC and Lynch syndrome for which recommendations for cancer genetic counseling were commonly missed. This characterization suggests that continuing education for prenatal and preconception genetic counselors on updated NCCN guidelines may be helpful for improving rates of cancer genetic counseling referrals, uptake of genetic testing, and cancer screening recommendations.

Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.

Prenatal exome sequencing (ES) is increasingly used for prenatal diagnosis because emerging data indicate it has incremental diagnostic benefit in pregnancies with fetal anomalies without identified genetic abnormalities by karyotyping and chromosomal microarray analysis. The aim of this study was to evaluate the medical community's attitude toward the clinical utility and use of exome sequencing for prenatal diagnosis and to address differences in attitudes and responses by type of practitioner, level of training, and years passed since last full-time training. We analyzed the answers of 109 trainees and professionals in the fields of genetic counseling, laboratory science, and medicine to an online survey addressing these topics. Multiple-choice questions asked participants about their awareness of prenatal ES and what genetic test they would choose to order in certain scenarios. Likert-scale questions assessed participants' opinions of statements asserting when prenatal ES should be used for diagnostic testing. Attitude toward the use of prenatal ES statistically differed (p < 0.05) by type of participant and level of training. Practicing genetic counselors and physicians were more selective in their recommendations for prenatal ES than laboratory scientists. Genetic counseling students and practicing genetic counselors felt similarly about indications for the use of prenatal ES, whereas medical students were more liberal in their recommendations for prenatal ES than practicing physicians. This study shows a lack of consensus among the medical community regarding the clinical utility and indications for prenatal ES.

Prenatal testing in pregnancies conceived by in vitro fertilization with pre-implantation genetic testing.

OBJECTIVE: Women with pregnancies resulting from in vitro fertilization (IVF) with normal pre-implantation genetic testing for aneuploidy (PGT-A) are advised to undergo prenatal screening and testing during pregnancy. It is not well known how many follow these recommendations. Our objective was to study prenatal testing decisions made by women with pregnancies conceived through IVF with PGT-A. METHODS: We performed a retrospective review of women who received genetic counseling during pregnancies conceived through IVF with normal PGT-A. We excluded those who received genetic counseling preconceptionally prior to IVF. Statistical analysis included descriptive statistics and after testing for normality by the Kolmogorov-Smirnov test, independent t test, Mann-Whitney U test, or Chi-square/Fisher's exact test. RESULTS: Data from 83 women were included. Of these, 53 (63.9%) had at least one of the following prenatal tests: first trimester combined screening (16.9%), non-invasive prenatal screening (NIPS) (45.8%), second trimester serum screening (6%), and invasive diagnostic testing (6%). 10.8% had more than one of the above tests and 36.1% declined all tests. CONCLUSION: Almost two-thirds of women who were pregnant after IVF with normal PGT-A had prenatal aneuploidy screening or testing. Future prospective studies with larger cohorts are needed to further ascertain decision making in this population.

Spiritual Exploration in the Prenatal Genetic Counseling Session.

Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p < 0.001). Conversely, when no religious/spiritual terms were present, the counselor felt uncertain about the importance of R/S 63 % of the time. However, 67 % of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93 % reported using positive religious coping. Less than 25 % reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

OBJECTIVE: Diagnostic whole exome sequencing (WES) is rapidly entering clinical genetics, but experience with reproductive genetic counseling aspects is limited. The purpose of this study was to retrospectively review and report on our experience with preconception and prenatal genetic counseling for diagnostic WES. METHOD: We performed a retrospective chart review over 34 months in a large private prenatal genetic counseling practice and analyzed data for referral indications, findings, and results of genetic counseling related to diagnostic WES. RESULTS: Ten of 14 patients counseled about diagnostic WES for ongoing pregnancies pursued the test, resulting in identification of three pathogenic variants (30%). Five of 15 patients seeking counseling about familial WES results in an affected proband pursued prenatal diagnosis, resulting in identification of one affected fetus and five unaffected fetuses. We experienced challenges related to complexity and uncertainty of results, turnaround time, cost and insurance overage, and multidisciplinary fetal care coordination. CONCLUSION: Despite having experienced complexity and identified challenges of the reproductive genetic counseling, availability of diagnostic WES contributed important information that aided in prenatal care planning and decision-making. Future enhanced provider education and larger studies to systematically study the integration of WES in reproductive genetic counseling and prenatal care will be important.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

BACKGROUND: Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting. METHODS: We retrospectively reviewed indications, results, time to results (turnaround time, TAT), and impact of exome results for 146 consecutive "fetal exomes" performed in a clinical diagnostic laboratory between March 2012 and November 2017. We define a fetal exome as one performed on a sample obtained from a fetus or a product of conception with at least one structural anomaly detected by prenatal imaging or autopsy. Statistical comparisons were performed using Fisher's exact test. RESULTS: Prenatal exome yielded an overall molecular diagnostic rate of 32% (n = 46/146). Of the 46 molecular diagnoses, 50% were autosomal dominant disorders (n = 23/46), 41% were autosomal recessive disorders (n = 19/46), and 9% were X-linked disorders (n = 4/46). The molecular diagnostic rate was highest for fetuses with anomalies affecting multiple organ systems and for fetuses with craniofacial anomalies. Out of 146 cases, a prenatal trio exome option designed for ongoing pregnancies was performed on 62 fetal specimens, resulting in a diagnostic yield of 35% with an average TAT of 14 days for initial reporting (excluding tissue culture time). The molecular diagnoses led to refined recurrence risk estimates, altered medical management, and informed reproductive planning for families. CONCLUSION: Exome sequencing is a useful diagnostic tool when fetal structural anomalies suggest a genetic etiology, but other standard prenatal genetic tests did not provide a diagnosis.

Patient Perception of Negative Noninvasive Prenatal Testing Results.

Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed. Methods and Materials We conducted a prospective cohort study to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT result. Ninety-four participants who had prenatal genetic counseling and a subsequent negative NIPT were surveyed. Results There was a significant decline in general level of worry after a negative NIPT result (p = <0.0001). The majority of participants (61%) understood the residual risk post NIPT. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 (p = 0.012) and sex chromosome abnormality (p = 0.039), and were more likely to understand which conditions NIPT tests for (p = 0.021), compared to those women with less formal education. Conclusion These data demonstrate that despite the relatively recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after receiving genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding.