Utilization Of Genetic Services Research Articles

Health information technology to improve referral to genetic testing for high-risk patients in a gynecologic oncology clinic (102)

<b>Objectives:</b> Our previously presented pilot study evaluated a web-based tool to collect family cancer history (FCH). It demonstrated that this tool resulted in significantly higher quality FCH compared to standard of care face-to-face physician interviews. However, the true value of FCH requires translation into the utilization of genetic services. Here, we aimed to evaluate referral rates and completion of genetic services for patients completing the web-based tool versus standard of care. <b>Methods:</b> Patients scheduled for a gynecologic oncology new patient visit between September 2019 and September 2021 were eligible for enrollment in this institutional review board-approved prospective trial. The trial had three arms: <i>1)</i> Standard of care (FCH collection by physicians) <i>2)</i> Web-based tool administered by email prior to the visit, <i>3)</i> Web-based tool administered in the office prior to the visit (this arm closed early due to COVID-19 restrictions). Individuals were identified as high-risk for familial cancer if they met National Comprehensive Cancer Network (NCCN) guidelines in the standard of care arm, or if the validated cancer risk models embedded in the web-based tool returned a lifetime cancer risk >20% or mutation risk >2.5% in the web-based tool arms. Validated risk assessment models included breast and ovarian BRCAPRO, Claus, Tyrer-Cuzick, Gail, colorectal and endometrial MMRPRO, MELAPRO, PANCPRO, and PREMM. The primary endpoint was the percentage of high-risk patients referred for genetic counseling/testing. Secondary endpoints included the completion of genetic counseling and genetic testing. <b>Results:</b> Two hundred and fifty patients were enrolled (Arm 1: 110; Arm 2: 105; Arm 3: 35). Among patients randomized to the web-based tool, 88 (63%) completed the tool. In the control arm, 31 patients (28%) met the criteria for referral to genetics, among which 18 (58%) had previously completed genetic testing. In the web-based tool arm, 26 patients (30%) met the criteria, among which 12 (46%) had previously completed genetic testing, and one was deceased soon after her visit. In the control arm, 54% of high-risk patients were referred to genetic counseling, 23% completed genetic counseling, and 23% completed genetic testing. In the web-based tool arm, 100% of high-risk patients were referred to genetic counseling, 54% completed genetic counseling, and 38% completed genetic testing (Table 1). <b>Conclusions:</b> When successfully completed, the use of a web-based tool for FCH collection facilitated the process of referral to genetics, resulting in significantly higher referral rates to genetic counseling than the standard of care physician interviews (100% vs 54%, p=0.01). However, 37% of patients could not complete the web-based tool. Our findings demonstrate the potential power of health information technology to identify millions of individuals unknowingly carrying familial cancer syndromes and highlight those tools must be designed in a way to maximize patient participation.Fig. 1

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.

Introduction:Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics.Methods:A 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs’ rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents’ personal and practice characteristics.Results:A total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without (P = .008). White PCPs referred at significantly higher rates compared to Black or African American PCPs (P = .009). The most commonly reported motivators for referring patients to genetic services were preference for specialist coordination, lack of knowledge, and family’s desire for risk information. The most commonly reported barriers were patient refusal, provider concerns about costs to patients, and uncertainty of when a genetic referral is appropriate. In response to clinical scenarios, clinical geneticists were in agreement about the need for genetic testing or referral for 2 of the scenarios. For these 2 scenarios, only 48% and 71% of PCPs indicated that they would offer genetic testing or referral, respectively.Conclusions:Responses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs’ utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.

Early-onset colorectal cancer in younger patients: A population-based study.

124 Background: In the US, the incidence of colorectal cancer (CRC) is increasing in patients younger than 50 years who may present with advanced stage, high grade, left-sided colon or rectal cancers with signet ring cell histopathology, aggressive clinical course, and reduced overall survival. Understanding the characteristics of this population could inform screening, early detection, and optimal treatment. In this study, we describe the attributes of adults who are 50 years and younger with a first diagnosis of CRC and ascertain molecular testing rates and time to surgery by using data from a commercially insured cohort in the U.S. Methods: This retrospective study of patients ages 50 and younger with a first diagnosis of CRC utilizes the IBM MarketScan database, and focuses on claims from January 2013 to December 2018. Included patients had continuous insurance enrollment of 12 months before and 6 months after diagnosis. We determined rates of tumor testing for microsatellite instability (MSI) or immunohistochemistry (IHC) for mismatch repair (MMR) proteins and referral to genetic services in all patients, as well as mutational analysis of KRAS, NRAS, and BRAF in metastatic CRC patients. Time to surgical resection of primary tumor (TTS) in non-metastatic colon cancer patients was measured. Results: During the 5-year period, 10,577 patients ages 18 to 50 years had a first diagnosis of CRC, which was 15.6% of the 67,921 adults of all ages with CRC. Claims for MSI or IHC for MMR proteins within 120 days of initial diagnosis were done in 4,429 (41.9%) patients and referral to genetics services/counseling within 1 year of initial diagnosis were done in 443 (4.1%) patients. Among metastatic CRC patients, KRAS, NRAS, or BRAF tumor mutational analyses within 120 days of initial diagnosis were documented in 323 (31.5%). The median TTS ranged from 7 to 15 days with no statistically significant differences based on geographic region or health insurance plan type. Conclusions: Younger patients with early onset CRC had low rates of referral to genetics services, tumor MSI or IHC for MMR proteins testing, and KRAS, NRAS, and BRAF mutational analysis. There were no geographic or insurance type trends in TTS in non-metastatic colon cancer patients. Although underreporting is possible in our study, the findings of low utilization of genetic services and tumor genomic testing in these younger patients with early onset CRC should alert the oncology community to critical management gaps in the care of this population.

Impact of a Genetic Evaluation Initiative to Increase Access to Genetic Services for Adolescent and Young Adults at a Tertiary Cancer Hospital.

Purpose: Adolescents and young adults (AYAs) with cancer are at increased risk for inherited cancer predisposition syndromes. Genetic counseling (GC) is important for accurate risk assessment, diagnosis, and management of inherited cancers. Numerous barriers prevent AYA access to genetic services. This study describes outcomes of a genetic evaluation initiative (GEI) regarding utilization of genetic services among AYAs. Methods: To improve AYA access to GC, the AYA program at UT MD Anderson Cancer Center implemented GEI, a process for identifying and referring eligible patients for GC. We collected retrospective electronic medical record data between July 12, 2018 and July 12, 2019 to capture AYA's clinical characteristics, genetic referral, scheduled appointments, counseling, testing, and results. Results: In total, 516 AYAs were referred to the AYA clinic during the study period with a median age of first cancer diagnosis of 17 years. One hundred sixty-six AYAs were identified who would benefit from genetic evaluation, 57 (34.3%) of whom had previously undergone counseling. One hundred nine patients were recommended for referral to GC, and 64.2% (70/109) were referred by the AYA team. To date, 58.6% (41/70) met with a genetic counselor and 75.6% (31/41) completed genetic testing, which yielded 1 pathogenic, 2 uncertain, and 29 benign results. Conclusion: The GEI resulted in a 72.0% relative increase in the rate of GC utilization and represents a novel approach to increasing AYA patient access to cancer genetic services in this population.

First year outcomes of an initiative to increase BRCA testing among NCCN guideline-eligible breast cancer patients within a large community OCM practice.

1540 Background: Pathogenic variants in BRCA1/BRCA2 can affect a breast CA pts care: preventative interventions, surgical decisions, medical treatments, screening, and family counseling. National data suggests significant non-adherence to NCCN testing guidelines, with only 1/3 of eligible pts referred for genetic services. In 2018, OHC (Cincinnati) launched an APP-centric genetics program. Specially trained APPs carry out genetic counseling and order NCCN-compliant testing. Early data suggested a significant deficit in physician-driven referrals. From 1/01/18 - 07/31/18, 138 new breast pts were estimated to be NCCN guideline-eligible. Only 28 (20%) pts received genetic services. Methods: In 2019, the OHC genetics team implemented a standardized screening process for every new breast CA pt. An EMR template (iKnowMed G2) that included NCCN guidelines was created for initial breast CA consultation and Oncology Care Model (OCM) treatment planning. All pts, not just OCM pts, are subject to OCM treatment planning. This automated screening method ensured all breast CA pts were screened, drastically increasing compliance. Through integration of genetics screening into the templates, pts meeting NCCN criteria for testing are reflexively referred for genetic counseling. With USON/McKesson, integrated data fields were developed in the EMR to automate data collection. Results: From 01/01/19 – 12/31/19, 717 new breast CA pts were seen at OHC. 676/717 (94%) were screened. Of those screened, 279 new breast CA pts met NCCN criteria for BRCA testing. 140 (50%) eligible new pts had appts with the genetics team. Another 50 (18%) had confirmed testing outside of OHC. 57 (20%) refused appts and/or testing. 32 (11%) did not have appts, representing screen fails. Referrals in non-breast CA pts also increased by 127%; 604 (2019) vs 264 (2018) suggesting a halo effect. Analyses suggest the program to be economically viable, with a financial growth rate of 127%. Conclusions: EMR templates embedded with the NCCN guidelines for reflex genetics referral can appropriately increase the utilization of genetic services. Breast genetics screening and resultant appt/testing rates increased significantly 2019 vs 2018. Success in BRCA testing in breast CA will lead to expansion to other cancers and genes. Implementation of structured EMR genetics data fields can automate data collection and measure compliance. Integration of genetics screening into universal OCM treatment planning is feasible, economically viable and scalable.

Patterns of Utilization of Genetic Services Following the Initiation of Community based Primary Care Carrier Screening in a Traditional Muslim Community

Consanguineous marriages could result in high incidence of autosomal recessive diseases, leading to high rates of infant mortality, morbidity and severe permanent handicap. In the current study we aim to assess the effectiveness of a community based genetic advisory service (CGAS) that was initiated in 2005 to improve the utilization rate of genetic counseling and carrier testing among Muslim Bedouin population in Israel. Data were collected from the CGAS intake records of couples or individuals who attended the CGAS through 2005-2006. Of the 1433 referrals to the CGAS during the year 2006, 719 (50.1%) were referred by primary health providers as they belonged to families associated with autosomal recessive genetic diseases. Most (N=1043, 73.0%) of the referrals were pregnant women, 583 (81.0%) were in consanguineous marriages, 340 (58.3%) of which were married to first cousins. Of all those in consanguineous marriages, 456 (78.2% out of 583) were referred for carrier status genetic tests, 17.7% had been tested in the past, and 4.1% refused testing. Results indicate that a culturally compliant community-based genetic advisory service, along with full coverage of costs was found to be effective in achieving high rate of informed carrier testing. Informing couples of their risk lead to early referrals and relatively high acceptance of fetal testing by CVS in conformation with religious rules.

Physicians' Awareness and Utilization of Genetic Services in Texas.

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15years. Access to genetic tests and services often hinges on physicians' ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians' awareness and utilization of genetic services. In this study, an electronic survey evaluating practicing physicians' awareness of, utilization of and perceived barriers to genetic services in Texas, and interest in learning more about genetics and genetic services was distributed via state physician organizations. Of the 157 participants, approximately half reported they were moderately or very aware of genetic testing and services in their area. Very few reported awareness of telemedicine services. Over two-thirds reported never or rarely referring to genetic counselors or other genetic specialists, despite 75% reporting they had noticed an increased impact of genetics on their field and 61% reporting they had discussed genetics more in their day-to-day practice in the last 5-10years. Only 20% reported genetics was very integral to their specialty. Over three-fourths of all participants indicated interest in learning more about genetics, genetic testing, and genetic services. Among the most frequently chosen barriers to genetic counselors were awareness-related barriers such as not knowing how to refer to a genetic counselor. Responses to many items varied significantly by medical specialty. The results identify a need to increase awareness of genetic services and referral logistics. Specific findings can help direct outreach efforts to educate clinicians, such as developing clinically meaningful, specialty-specific educational objectives.

Abstract A71: BRCA mutations and surgical decision making in a sample of young black women with invasive breast cancer

Abstract Background: On average, Black women develop breast cancer ten years earlier than White women and are more likely to die from the disease. Early onset breast cancer is a hallmark feature of the BRCA1 and BRCA2 (BRCA) gene mutations and may contribute to a portion of breast cancers in Black women. Widespread availability of genetic testing for hereditary breast cancer has resulted in an increasing number of women considering their BRCA test results prior to surgical treatment decisions for their breast cancer surgery (e.g., consideration of a risk-reducing bilateral mastectomy, contralateral prophylactic mastectomy). However, little is known about use of BRCA testing prior to definitive surgery specifically among Black women. The purpose of this abstract is to describe baseline utilization of BRCA testing in Black breast cancer patients prior to surgery and to document the prevalence of BRCA mutations in a cohort of Black women with early onset breast cancer. Methods: Black women diagnosed with invasive breast cancer ≤ age 50 between the years of 2005 and 2006 were recruited through the Florida Cancer Registry utilizing state-mandated recruitment methods. Participants completed genetic counseling and a comprehensive risk factor questionnaire including 7 items specific to referral and uptake of genetics clinical services. Biological specimens (either blood or saliva) were collected, and BRCA testing was performed. Results: Of the 209 eligible cases, 48 women consented to study participation. Of the 46 women with usable biological specimens: the average age of diagnosis was 42.8 ±6.14 and 50% (n=23) reported a positive family history of breast cancer (i.e., ≥ 1 first and/or second-degree relative with breast cancer). A previous BRCA test was reported by 30.4% (n=14) of those completing the study with only 2 participants (4.3%) receiving a genetic test result prior to making a breast surgery decision. Seven women (15.2 %) chose a bilateral mastectomy, 4 of which were risk reducing. No association was observed between family history and the type of breast surgery elected. Mutations in the BRCA genes were identified in three participants (including 1 in BRCA1 and 2 in BRCA2). In 16 additional participants, there were a total of 28 variants of uncertain significance (VUS) identified. Conclusions: Our results suggest that few Black women utilized genetic test results and/or family history to make surgical decisions for their breast cancer treatment despite data documenting similar BRCA prevalence rates in Black women with early onset breast cancers as those previously reported in White women. These findings highlight an important health disparity in access to and utilization of genetics services among Black women with breast cancer. Citation Information: Cancer Epidemiol Biomarkers Prev 2011;20(10 Suppl):A71.

Disparities in Genetic Testing: Thinking Outside theBRCABox

The impact of predictive genetic testing on cancer care can be measured by the increased demand for and utilization of genetic services as well as in the progress made in reducing cancer risks in known mutation carriers. Nonetheless, differential access to and utilization of genetic counseling and cancer predisposition testing among underserved racial and ethnic minorities compared with the white population has led to growing health care disparities in clinical cancer genetics that are only beginning to be addressed. Furthermore, deficiencies in the utility of genetic testing in underserved populations as a result of limited testing experience and in the effectiveness of risk-reducing interventions compound access and knowledge-base disparities. The recent literature on racial/ethnic health care disparities is briefly reviewed, and is followed by a discussion of the current limitations of risk assessment and genetic testing outside of white populations. The importance of expanded testing in underserved populations is emphasized.

Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients

Purpose: To explore the concerns of at-risk relatives of colorectal cancer patients about genetic discrimination and their awareness of current legislative protections.Methods: A questionnaire was sent to unaffected individuals with a family history of colorectal cancer who had enrolled in the Johns Hopkins Hereditary Colorectal Cancer Registry (N = 777).Results: Of the 470 respondents, approximately half rated their level of concern about genetic discrimination as high. The majority of respondents, 79%, learned about genetic discrimination from at least one media source (television, newspapers, magazines, and radio). If they were to pursue genetic testing, respondents with a higher level of concern about genetic discrimination would be significantly more likely to pay out of pocket, use an alias, or ask for test results to be excluded from their medical record. Awareness and understanding of legislation regarding genetic discrimination was found to be minimal.Conclusion: Findings from this study demonstrate the negative effect of concerns about genetic discrimination on decisions about utilization of genetic services. Stronger legislative protections against genetic discrimination and increased public education through the scientific community and media sources are needed.

Perceptions of Mexican American Clients Receiving Genetic Services in South Texas

Objectives: The objectives of this study were to assess the perceptions among medically indigent Mexican American clients in South Texas receiving genetic services, and the effects of these perceptions on the utilization of genetic services. Methods: Using a qualitative ethnographic approach, 16 caretakers of children with genetic conditions and 7 prenatal clients were interviewed. Interview data were analyzed using the NUD*IST 4 computer program. Results: Clients reported challenges with understanding and utilizing genetic services due to language and communication barriers, poverty, cultural differences, and system issues. Conclusion: Client perceptions of genetic services were influenced by experiences with other biomedical providers and traditional healers, and by anxieties precipitated by unfamiliar concepts and approaches to medical care. Recommendations are made to improve provision of genetic services.

Improving Access to and Utilization of Genetic Services in Arizona’s Hispanic Population

This abstract presents a model project aimed to train community lay health workers about genetics, increase cultural competency of genetic services providers, and provide local access to genetic services in primarily Hispanic communities in the state of Arizona. Health Start, a community-based prenatal outreach program, served as the basis for providing genetic education and services. A genetics training curriculum was developed and training of community lay health workers was provided. Cultural and Spanish language training was provided for all genetic services providers. Pediatric genetics outreach clinics were established in eight communities. Community-based lay health workers eagerly incorporate genetic information into their public health knowledge base, but this may not lead to acceptance of these personnel by local health care providers as sources of referrals for specialized health services such as genetics. Cultural competence training of genetic service providers is enthusiastically accepted and utilized in the provision of locally accessible genetics clinics.

Genetic Testing of Families With Hereditary Diseases-Reply

In Reply. —We thank Dr Olopade and Dr Thurmon for sharing their data on use of genetic counseling. Consistent with other studies,1,2these reports suggest that rates of utilization of genetics services may vary substantially depending on such factors as mode of enrollment and financial costs. We agree strongly with Olopade's comments about the need to improve access to genetic testing research protocols, and we hope that this will be achieved by the Cancer Genetics Network, a national cooperative study on cancer genetics and testing proposed by the National Institutes of Health.3 We also appreciate the clarification by Dr Wexler regarding the conclusions of a previous study of predictive testing for theHDgene.4Wexler also highlights the important fact that some individuals who receivedHDgene test results did experience adverse psychological effects. As we have pointed out, examination of average responses in study groups may obscure important

Social Workers' Knowledge and Utilization of Genetic Services

Social Workers' Knowledge and Utilization of Genetic Services