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.

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.

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.

Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors.

Clinical documentation is an important extension of a genetic counseling encounter. The traditional types of clinical documentation include the clinical visit note (including follow-up visit note), letter to the referring physician, letter to the patient, and result summary to the patient and referring physician. Increasing patient volumes, new genetic counseling service delivery models, transition to electronic medical records (EMR), new specialty clinics in genetics, and advances in genetic testing technologies challenge the practice of writing multiple types of clinical documents. This practice resource (PR) seeks to provide best practices for U.S.-based genetic counselors to write efficient and comprehensive clinical documentation using a hybrid clinical document designed to facilitate communication between individual providers, providers, and patients/families, and providers and payers. The content of the hybrid clinical documentation will vary by genetic specialty but may include a summary of genetic services evaluation, genetic testing options and eligibility information, genetic test results, potential risks for genetic conditions, implications for family members, and medical management recommendations. An outline of a general hybrid document along with examples of hybrid clinic notes for three types of genetic counseling specialties is included in this document.

Assessing the availability and quality of Spanish-language genetic resources for patients on the internet.

In recent years, people increasingly are accessing health information on the Internet. A significant percentage of the United States (US) population has limited English proficiency with Spanish being the most common other language spoken. There is limited research on the presence or quality of Spanish-language health information, particularly in genetics, on the Internet overall. Therefore, we aimed to assess the availability and quality of patient-specific education resources in Spanish available on US-based support group websites for a wide range of genetic conditions. We assessed 630 websites through the Disease InfoSearch website (www.diseaseinfosearch.org), created by Genetic Alliance, for the presence of Spanish genetic resources for patients with a new diagnosis of a genetic condition. Of these, 261 (41.4%) websites met study criteria for further evaluation. Of the 99 websites (37.9%) that had any Spanish content, 45 Spanish resources and a paired English resource from the same site met criteria for a quality assessment. Scoring was performed by two independent raters using Ensuring Quality Information for Patients (EQIP), a previously validated tool to assess the quality of written health information. The mean scores for Spanish and English resources were 57.3% and 58.4%, respectively, corresponding to a good quality score according to guidelines proposed by authors of EQIP. An independent two-sample t test showed no significant difference in the mean quality scores between Spanish and English resources (p-value = .506). Overall, we found limited availability of Spanish resources on the websites analyzed, but of those identified, there was no difference between the quality of Spanish resources and the paired English resources from the same site. These results highlight the need for genetics professionals to advocate for the creation of more Spanish patient resources. However, genetics professionals can have some reassurance that if a support group does produce a Spanish resource, it likely has comparable quality to its English equivalent.

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.

The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X-linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10-28) and carrier females was 3.4 (range: 0-22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.

Genetic counselor workflow study: The times are they a-changin'?

Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face-to-face with patients in comparison to the time spent on patient-related activities (PRA). We aimed to perform a real-time workflow study of GCs representing multiple clinics and specialties. We developed an electronic collection tool formatted in 15-min increments for real-time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list. Participants were Michigan GCs recruited via email solicitation. Sixteen of an estimated 70 patient-facing GCs (23%) representing prenatal, cancer, adult, and pediatric genetics took part by completing a demographic survey and the workflow study. The GCs reported spending approximately 20% of their time face-to-face with patients, 64% on PRA including case preparation, follow-up, and administrative tasks, and 16% on tasks unrelated to direct patient care. They saw a mean of 10 patients/week with a mean session length of 47 min. Approximately 3 hr of PRA were performed for the 0.78 hr (47 min) of face-to-face time with a patient. The most time-consuming task in the PRA category was letter writing. Identifying strategies to reduce the amount of time spent on PRA could increase the amount of available time GCs have to spend on providing face-to-face services and subsequently, the number of patients seen. Such efforts are critical to help meet the growing demand for genetic counseling services.

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients.

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today's clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

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.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

BACKGROUND: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. METHODS: We analyzed the genomes of 2312 children known to carry a copy-number variant associated with intellectual disability and congenital abnormalities, using array comparative genomic hybridization. RESULTS: Among the affected children, 10.1% carried a second large copy-number variant in addition to the primary genetic lesion. We identified seven genomic disorders, each defined by a specific copy-number variant, in which the affected children were more likely to carry multiple copy-number variants than were controls. We found that syndromic disorders could be distinguished from those with extreme phenotypic heterogeneity on the basis of the total number of copy-number variants and whether the variants are inherited or de novo. Children who carried two large copy-number variants of unknown clinical significance were eight times as likely to have developmental delay as were controls (odds ratio, 8.16; 95% confidence interval, 5.33 to 13.07; P=2.11×10(-38)). Among affected children, inherited copy-number variants tended to co-occur with a second-site large copy-number variant (Spearman correlation coefficient, 0.66; P<0.001). Boys were more likely than girls to have disorders of phenotypic heterogeneity (P<0.001), and mothers were more likely than fathers to transmit second-site copy-number variants to their offspring (P=0.02). CONCLUSIONS: Multiple, large copy-number variants, including those of unknown pathogenic significance, compound to result in a severe clinical presentation, and secondary copy-number variants are preferentially transmitted from maternal carriers. (Funded by the Simons Foundation Autism Research Initiative and the National Institutes of Health.).

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1. While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non-BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions.

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

With the widespread clinical use of comparative genomic hybridization chromosomal microarray technology, several previously unidentified clinically significant submicroscopic chromosome abnormalities have been discovered. Specifically, there have been reports of clinically significant microduplications found in regions of known microdeletion syndromes. In general, these microduplications have distinct features from those described in the corresponding microdeletion syndromes. We present a 5½-year-old patient with normal growth, borderline normal IQ, borderline hypertelorism, and speech and language delay who was found to have a submicroscopic 2.3 Mb terminal duplication involving the two proposed Wolf-Hirschhorn syndrome (WHS) critical regions at chromosome 4p16.3. This duplication was the result of a maternally inherited reciprocal translocation involving the breakpoints 4p16.3 and 17q25.3. Our patient's features are distinct from those described in WHS and are not as severe as those described in partial trisomy 4p. There are two other patients in the medical literature with 4p16.3 microduplications of similar size also involving the WHS critical regions. Our patient shows clinical overlap with these two patients, although overall her features are milder than what has been previously described. Our patient's features expand the knowledge of the clinical phenotype of a 4p16.3 microduplication and highlight the need for further information about it.