Evaluation of genetic counseling among cystic fibrosis carriers, Michigan Newborn Screening

Objective A quality improvement (QI) strategy to improve the rate of genetic counseling (GC) services was initiated in cystic fibrosis (CF) care Center E in 2010. This statewide study was conducted to determine: (1) GC rates before and after implementation of the QI strategy at Center E; (2) characteristics associated with not receiving GC; and (3) topic areas addressed during GC. Methods The retrospective study included 1,097 CF carriers born from 2008 to 2011 identified through Michigan's Newborn Screening Program. Rate of GC services was determined for Center E and the other four CF centers before and after the QI change. Bivariate and multivariable logistic regression was used to determine associations between select characteristics and not receiving GC. Topic areas discussed during GC sessions were assessed using frequency tables. Results Rate of GC services in Center E increased from 23% in 2008–2010 to 91% in 2011, while at the other centers approximately 92% received GC services across those years. In 2008–2010, being seen at Center E and black race were significantly associated with increased likelihood of not receiving GC services in adjusted analyses. In 2011, neither characteristic was associated with receipt of GC. Of 16 target topic areas, all were discussed in 85% of GC sessions. Conclusions Implementing a QI strategy of providing sweat test results at the GC appointment within Center E resulted in more CF carriers receiving comprehensive GC services. Center‐specific procedure differences should be assessed to increase rate of GC services following a positive CF newborn screen. Pediatr Pulmonol. 2013; 48:123–129. © 2012 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/96254/1/22703_ftp.pd

Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review

OBJECTIVE: To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT-M) for hereditary cancer syndromes (HCS). METHODS: Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications related to PGT-M for HCS. When appropriate, weighted means were used to calculate clinical and live birth rates. RESULTS: We identified 22 publications that reported on clinical and/or psychosocial outcomes of PGT-M for HCS. The weighted mean clinical pregnancy rate (CPR) per embryo was 33.5% (11 studies, 95% CI: 29.1%, 38.2%), and the CPR per cycle with embryonic transfer was 40.1% (14 studies, 95% CI: 36.1%, 44.3%). The weighted mean live birth rate (LBR) per embryo was 28.9% (11 studies, 95% CI: 24.7%, 33.4%) and the LBR per cycle with embryonic transfer was 33.2% (13 studies, 95% CI: 29.2%, 37.4%). The limited literature regarding the psychosocial outcomes of PGT-M for HCS suggests reproductive decision-making is difficult and additional support may be desired. CONCLUSION: These findings suggest that CPR and LBR following PGT-M for HCS are comparable to other monogenic disorders. Heterogeneity across studies suggests the overall CPR and LBR found may not be applicable to all HCS indications and PGT-M methodologies

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design

Abstract Background Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group. Because prevention is a key to the cost-effective and long-term control of cancer, the potential for cancer genetic counseling to play a central role in reducing racial cancer disparities is high. However, the benefits of genetic counseling are not equitable across race. Only 2% of genetic counselors self-identify as Black/African American, so most genetic counseling encounters with Black patients are racially discordant. Patients in racially discordant medical interactions tend to have poorer quality patient-provider communication and receive suboptimal clinical recommendations. One major factor that contributes to these healthcare disparities is racial bias. Drawing on findings from prior research, we hypothesize that genetic counselor providers’ implicit racial prejudice will be associated negatively with the quality of patient-provider communication, while providers’ explicit negative racial stereotypes will be associated negatively with the comprehensiveness of clinical discussions of cancer risk and genetic testing for Black (vs. White) patients. Methods Using a convergent mixed methods research design, we will collect data from at least 15 genetic counseling providers, from two different institutions, and their 220 patients (approximately equal number of Black and White patients per provider) whose appointments are for a hereditary cancer condition. The data sources will include two provider surveys, two patient surveys, video- and/or audio-recordings of genetic counseling encounters, and medical chart reviews. The recorded cancer genetic counseling in-person and telehealth encounters will be analyzed both qualitatively and quantitatively to assess the quality of patient-provider communication and the comprehensiveness of clinical discussion. Those data will be linked to pre- and post-encounter survey data and data from medical chart reviews to test our hypotheses. Discussion Findings from this multi-site study will highlight specific aspects of cancer genetic counseling encounters (patient-provider communication and clinical recommendations) that are directly associated with patient-centered outcomes (e.g., satisfaction, trust, genetic testing completion). Patient-provider communication and clinical recommendations are modifiable factors that can be integrated into current genetic counseling training curricula and thus can have immediate impact on genetic counseling training and practice