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Objectives Integrating genetic test results into the electronic health record (EHR) is essential for integrating genetic testing into clinical practice. This article describes the organizational challenges of integrating discrete apolipoprotein L1 (APOL1) genetic test results into the EHR for a research study on culturally sensitive genetic counseling for living kidney donors. Methods We convened a multidisciplinary team across three institutions (Northwestern University, Northwestern Memorial HealthCare [NMHC], and OHSU Knight Diagnostic Laboratories [KDL]), including researchers, physicians, clinical information technology, and project management. Through a series of meetings over a year between the team and the genetic testing laboratory, we explored and adjusted our EHR integration plan based on regulatory and budgetary constraints. Results Our original proposal was to transmit results from KDL to NMHC as structured data sent via Health Level Seven (HL7) v2 message. This was ultimately deemed infeasible given the time and resources required to establish the interface, and the low number of samples to be processed for the study (n = 316). We next explored the use of Epic's Care Everywhere interoperability platform, but learned it was not possible as a laboratory test ordered for a research study; even though our intent was to study the APOL1 genetic test result's clinical use and impact, test results were still considered “research results.” Faced with two remaining options—downloading a PDF from the KDL laboratory portal or scanning a faxed result from KDL—only a PDF of the APOL1 test result could be integrated into the EHR, reinforcing the status quo. Conclusion Even with early and ongoing stakeholder engagement, dedicated project management, and funding, unanticipated implementation challenges—especially for research projects—can result in drastic design tradeoffs.

DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key public health principles and concepts with a focus on equity appear to be lacking in current efforts. We request ‘A Call to Action’ that involves all partners in DNA-based population screening. Potential actions to consider include: a) identification and elimination of systemic barriers that result in health inequities in DNA-based population screening and follow-up; b) creation of a national multidisciplinary advisory committee with representation from underserved communities; c) revisiting well-described public health screening principles and frameworks to guide new screening decisions and initiatives; d) inclusion of the updated Ten Essential Public Health Services with equity at the core in efforts at the local, state and national level.

Introduction: Perceived breast cancer risk predicts screening behaviors. However, perceived risk is often inaccurate, notably in Black women, who often underestimate their risk despite having higher disease-specific mortality rates. We examined predictors of perceived breast cancer risk, and its impact on surveillance.Methods: We used baseline data from a randomized trial including unaffected women recruited by relatives with early-onset breast cancer. Data collection occurred between 2012 and 2013. Accuracy of perceived risk was assessed by comparing perceived risk to objective lifetime breast cancer risks, calculated with the Gail and Claus models. A multivariate mixed model regression examined predictors of accuracy of perceived risk. The impact of perceived risk on breast cancer surveillance was assessed with one-way ANOVAS comparing Black to White women.Results: Among participants, 21.4% self-identified as Black and 78.6% as White. Overall, 72.9% (n=247/339), 16.2% (n=55/339), and 10.9% (n=37/339) of participants overestimated, accurately perceived, and underestimated, respectively, their lifetime breast cancer risk. Race did not predict the accuracy of risk perception. Younger participants were more likely to overestimate their risk (β=-.455; CI [-.772, -.138]; P=.005). MRI utilization was predicted by a higher objective risk (F(1,263 = 30.271; P

Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners’ current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one‐time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self‐identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.

IntroductionWhile living donor (LD) kidney transplantation is the optimal treatment for patients with kidney failure, LDs assume a higher risk of future kidney failure themselves. LDs of African ancestry have an even greater risk of kidney failure post-donation than White LDs. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly usingAPOL1genetic testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counselling with LD candidates aboutAPOL1due to a lack of knowledge and skill in counselling. Without proper counselling,APOL1testing will magnify LD candidates’ decisional conflict about donating, jeopardising their informed consent. Given cultural concerns about genetic testing among people of African ancestry, protecting LD candidates’ safety is essential to improve informed decisions about donating. Clinical ‘chatbots’, mobile apps that provide genetic information to patients, can improve informed treatment decisions. No chatbot onAPOL1is available and no nephrologist training programmes are available to provide culturally competent counselling to LDs aboutAPOL1. Given the shortage of genetic counsellors, increasing nephrologists’ genetic literacy is critical to integrating genetic testing into practice.Methods and analysisUsing a non-randomised, pre–post trial design in two transplant centres (Chicago, IL, and Washington, DC), we will evaluate the effectiveness of culturally competentAPOL1testing, chatbot and counselling on LD candidates’ decisional conflict about donating, preparedness for decision-making, willingness to donate and satisfaction with informed consent and longitudinally evaluate the implementation of this intervention into clinical practice using theReach,Effectiveness,Adoption,Implementation andMaintenance framework.Ethics and disseminationThis study will create a model forAPOL1testing of LDs of African ancestry, which can be implemented nationally via implementation science approaches.APOL1will serve as a model for integrating culturally competent genetic testing into transplant and other practices to improve informed consent. This study involves human participants and was approved by Northwestern University IRB (STU00214038). Participants gave informed consent to participate in the study before taking part.Trial registrationClinicalTrials.gov Identifier:NCT04910867. Registered 8 May 2021,https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000AWZ6&selectaction=Edit&uid=U0001PPF&ts=7&cx=-8jv7m2ClinicalTrials.gov Identifier:NCT04999436. Registered 5 November 2021,https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000AYWW&selectaction=Edit&uid=U0001PPF&ts=11&cx=9tny7v

Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE®) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank-sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE® scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes.

Simple Summary This cross-study comparison uses data collected over 10 years from families living in the US and in Switzerland in order to compare genetic literacy between individuals who had genetic counselling for hereditary breast/ovarian cancer (HBOC) and one or more of their relatives who did not, and examines factors influencing genetic literacy both at the individual and at the family level. The study identifies genetic risk factors and signs of HBOC that remain unclear, even to individuals who had genetic consultation, and highlights the gaps in the dissemination of genetic information. Sensitivity analysis examines the dissemination of genetic information from the individual who had counselling to relatives within the same family that did not. Abstract Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

We compared a tailored and a targeted intervention designed to increase genetic testing, clinical breast exam (CBE), and mammography in young breast cancer survivors (YBCS) (diagnosed &lt, 45 years old) and their blood relatives. A two-arm cluster randomized trial recruited a random sample of YBCS from the Michigan cancer registry and up to two of their blood relatives. Participants were stratified according to race and randomly assigned as family units to the tailored (n = 637) or the targeted (n = 595) intervention. Approximately 40% of participants were Black. Based on intention-to-treat analyses, YBCS in the tailored arm reported higher self-efficacy for genetic services (p = 0.0205) at 8-months follow-up. Genetic testing increased approximately 5% for YBCS in the tailored and the targeted arm (p &le, 0.001, p &lt, 0.001) and for Black and White/Other YBCS (p &lt, 0.001). CBEs and mammograms increased significantly in both arms, 5% for YBCS and 10% for relatives and were similar for Blacks and White/Others. YBCS and relatives needing less support from providers reported significantly higher self-efficacy and intention for genetic testing and surveillance. Black participants reported significantly higher satisfaction and acceptability. Effects of these two low-resource interventions were comparable to previous studies. Materials are suitable for Black women at risk for hereditary breast/ovarian cancer (HBOC).

Trying to predict what genetic counseling will look like in the era of precision medicine is a continuous challenge. According to the National Institutes of Health, precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle. In order to explore the future of genetic counseling practice in this era, this article examines the current genetic counseling practice, internal and external forces that most likely will continue to shape the genetic counseling profession, and discusses the most important aspects of what genetic counselors have to offer in the era of precision medicine.

Uptake of community-facing family health history (FHH) tools to identify those at highest risk of disease and target prevention efforts has been consistently low. This review uses the diffusion of innovations (DOI) as a framework to organize the FHH evidence base and identify potential strategies to improve uptake of community-facing FHH tools. Methods for this literature review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We completed systematic searches in PubMed, Embase, and Web of Science databases for studies from 2009 to 2017 and hand searched bibliographies of relevant literature to identify additional articles. We abstracted and synthesized results, which were then organized by the DOI including the innovation–decision making process and characteristics of the innovation likely to influence diffusion (e.g., compatibility, relative advantage, complexity, trialability, observa/bility). Of the 290 unique articles identified, 65 were eligible for full-text review after title and abstract screening; a total of 27 were included in the final abstraction. Eleven unique tools were identified. The most commonly used tool was the Surgeon General’s My Family Health Portrait (n =9/27). Only six studies directly evaluated participant perceptions shown to be associated with tool uptake. Studies tended to focus on improving compatibility by customizing tools to the target population’s needs and use of educational interventions. Results from this review suggest the need to evaluate strategies to increase the pace of uptake of community-facing FHH tools. These include pragmatic trials that compare different approaches to engage and evaluate participant perceptions of the relative advantage and complexity of tools. Ancillary support strategies may include collaborations with community networks to facilitate use and implementation study designs for rigorous evaluation. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12687-019-00424-9) contains supplementary material, which is available to authorized users.

Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1). Although hereditary cancers make up a small proportion of all cancers, the number of affected persons can be large, and the level of risk among affected persons is high. Two hereditary cancer syndromes for which public health professionals have worked to reduce the burden of morbidity and mortality are hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome.

National and state public health genomics efforts exist to effectively and responsibly translate genome-based knowledge to improve population health and reduce health disparities. Over the past two decades, public health genomics efforts have utilized the core public health functions of assessment, policy development, and assurance. Current evidence for a small number of genomic applications suggests that many lives could be saved if these were implemented in recommended populations. With the drastic increase in new genetic tests and technologies, multidisciplinary public health genomics efforts that should include public health dentistry are of greater importance. There is a need to integrate public health dentistry in efforts to increase use of evidence-based genomic tests and services to improve health outcomes. Additionally, public health genomic efforts also are utilized to promote awareness about the insufficient evidence of the validity, utility and ethical, legal, and social implications for the vast majority of genomic tests. This is demonstrated by a recent genetic testing policy statement and educational resources from the American Dental Association. These organizational efforts should be considered in other realms of public health genomics to ensure that only genetic tests and preventive services with sufficient evidence for use are being implemented in clinical and public health.

Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS. Among 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge. Racial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.

Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly obtained during routine health maintenance visits. To estimate the proportion of adults with a family history of SCDY, the Michigan Department of Health and Human Services (MDHHS) Genomics Program included two questions within the 2007 Michigan Behavioral Risk Factor Survey (MiBRFS). Prevalence estimates and 95% confidence intervals were calculated. Among adults in Michigan, 6.3% reported a family history of SCDY, with a greater prevalence among blacks, those with lower household income, and those with less education. Among those reporting a family history of SCDY, 42.3% had at least one first-degree relative and 26.2% had multiple affected family members. This is the first study to demonstrate the prevalence of family history of SCDY while also highlighting key sociodemographic characteristics associated with increased prevalence. These findings should guide evidence-based interventions to reach those at greatest risk.

This study examined clinical breast exam (CBE) and mammography surveillance in long-term young breast cancer survivors (YBCS) and identified barriers and facilitators to cancer surveillance practices. Data collected with a self-administered survey from a statewide, randomly selected sample of YBCS diagnosed with invasive breast cancer or ductal carcinoma in situ younger than 45 years old, stratified by race (Black vs. White/Other). Multivariate logistic regression models identified predictors of annual CBEs and mammograms. Among 859 YBCS (n = 340 Black; n = 519 White/Other; mean age = 51.0 ± 5.9; diagnosed 11.0 ± 4.0 years ago), the majority (> 85%) reported an annual CBE and a mammogram. Black YBCS in the study were more likely to report lower rates of annual mammography and more barriers accessing care compared to White/Other YBCS. Having a routine source of care, confidence to use healthcare services, perceived expectations from family members and healthcare providers to engage in cancer surveillance, and motivation to comply with these expectations were significant predictors of having annual CBEs and annual mammograms. Cost-related lack of access to care was a significant barrier to annual mammograms. Routine source of post-treatment care facilitated breast cancer surveillance above national average rates. Persistent disparities regarding access to mammography surveillance were identified for Black YBCS, primarily due to lack of access to routine source of care and high out-of-pocket costs. Public health action targeting cancer surveillance in YBCS should ensure routine source of post-treatment care and address cost-related barriers. Clinical Trials Registration Number: NCT01612338.

Genetic testing has grown dramatically in the past decade and is becoming an integral part of health care. Genetic nondiscrimination laws have been passed in many states, and the Genetic Information Nondiscrimination Act (GINA) was passed at the federal level in 2008. These laws generally protect individuals from discrimination by health insurers or employers based on genetic information, including test results. In 2010, Connecticut, Michigan, Ohio, and Oregon added four questions to their Behavioral Risk Factor Surveillance System (BRFSS) survey to assess interest in genetic testing, awareness of genetic nondiscrimination laws, concern about genetic discrimination in determining life insurance eligibility and cost, and perceived importance of genetic nondiscrimination laws that address life insurance. Survey results showed that awareness of genetic nondiscrimination laws was low (less than 20 % of the adult population), while perceived importance of these types of laws was high (over 80 % of respondents rated them as very or somewhat important). Over two-thirds of respondents indicated they were very or somewhat concerned about life insurance companies using genetic test results to determine life insurance coverage and costs. Results indicate a need for more public education to raise awareness of protections provided through current genetic nondiscrimination laws. The high rate of concern about life insurance discrimination indicates an additional need for continued dialogue regarding the extent of legal protections in genetic nondiscrimination laws.

This study determined the prevalence of non-Ashkenazi Jewish BRCA1/2 mutations in the Ashkenazi Jewish population in the state of Michigan, current provider testing practices, and the use of mutation probability models in determining which Ashkenazi Jewish individuals should be offered further analysis following negative BRCA1/2 founder testing. Testing patterns, mutation probabilities, and testing results were assessed for 327 Ashkenazi Jewish individuals seen for BRCA1/2 counseling in the state of Michigan who underwent testing for the Ashkenazi Jewish founder mutations. Only one (0.6 %) Ashkenazi Jewish individual with sequencing after negative founder analysis was found to have a non-founder mutation; no rearrangements were identified. Testing patterns varied by clinic, with the proportion of Ashkenazi Jewish individuals undergoing additional sequencing ranging from 22.2 to 92.9 %. In Ashkenazi Jewish individuals with a pre-test BRCAPRO risk calculation, the mean risk was significantly higher in those with follow-up sequencing compared to those who did not pursue additional testing. The low prevalence of non-founder BRCA1/2 mutations in Ashkenazi Jewish individuals does not warrant automatically reflexing to full analysis after negative mutation testing. Increased use of mutation probability models may aid in determining which cases warrant additional testing.

The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008-2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR), reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria) were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral). Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets) were viewed 1624 times and downloaded 764 times. Satisfaction among the subset of users applying for continuing medical education credit was high. The online educational module had a much broader reach than the bidirectional reporting initiative but to a self-selected audience. Combining targeted and broad-based provider education efforts may be a better way to increase HBOC awareness in the target audience, starting with those providers seeing the largest proportion of patients at risk.

Direct-to-consumer personal genomic tests are widely available, but population-based data are limited on awareness and use of these tests among the general public in the United States.We assessed awareness and use of direct-to-consumer personal genomic tests in Connecticut, Michigan, Oregon, and Utah using the 2009 Behavioral Risk Factor Surveillance System and compared the state results to the 2008 national HealthStyles survey results.Awareness was the highest in Oregon (29.1%) and the lowest in Michigan (15.8%). Factors associated with awareness across all states and nationally were higher education, higher income, and increasing age, except among those 75 years or older. Less than 1% of respondents had used the tests, with about one-half to three-quarters of those sharing the results with a health-care provider.Awareness of direct-to-consumer genetic tests is greater in this study as compared with a related study conducted in 2006, whereas use is similarly low in both studies. The few respondents who reported using the tests often reported sharing their results with their health-care provider, indicating an important opportunity for health-care providers to offer patient education regarding these tests. Public health agencies have important roles in surveillance, education, and policy development on direct-to-consumer genomic tests.

Purpose: Focus groups were utilized as a mechanism to solicit input from the public in developing the Michigan BioTrust for Health, a program of the Michigan Department of Community Health to improve storage conditions and promote use of residual newborn screening dried blood spots in health research. Methods: In 2008–2009, 10 diverse communities representative of the general public that might have special concerns as stakeholders in the BioTrust were identified, and 4 discussion questions were developed for use with a standard agenda. Focus group discussions were audio-recorded and transcribed by department staff. Qualitative conclusions resulting from the group discussions were compared with written, quantitative pre- and post-survey responses completed by individual participants. Results: Overall, there was considerable concurrence of opinion across the focus groups. Participants were generally positive about the BioTrust; a sentiment that held true across different demographic populations with over 85% of participants stating they would support use of residual dried blood spots in health research. Conclusion: The focus group process and findings played an important role for public health policy makers in affirming the importance of engaging and informing the public and led to concrete steps to foster community support.

Objective: The Michigan Department of Community Health (MDCH) Cancer Genomics Program sought to increase the number of health plans with a written policy aligned with the United States Preventive Services Task Force (USPSTF) Grade B Recommendation stating that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 be referred for genetic counseling and evaluation for BRCA testing. Methods: Through a cooperative agreement with the Centers for Disease Control and Prevention, MDCH with health plan partners utilized multiple methods (i.e. surveillance, education, federal and state policies, partnerships, and dissemination) to increase the number of health plans with a written policy aligned with the USPSTF Grade B BRCA Recommendation between 2008 and 2011. Results: Since 2008, the number of health plans that have policies consistent with USPSTF Grade B BRCA Recommendation in Michigan increased from 4 to 11. These 11 health plans provide coverage to over 7 million Michigan residents. Honors were bestowed by MDCH to these 11 health plans for their exemplary written policies. Conclusions: MDCH has implemented a novel and effective approach to promote cancer genomics best practices through health plan policies that serves as a model for federal and state agencies.

Objectives: The level of support among Michigan adults for the use of residual newborn screening dried blood spots (DBS) was investigated. Methods: We analyzed data from 4 questions on the 2008 Michigan Behavioral Risk Factor Surveillance System (n = 3,108). The questions asked about general support for the use of DBS for research and for research investigating childhood diseases, adult diseases and diseases related to environmental exposures. Results: The majority of adults (72.3%) favored the use of DBS for research intended to benefit the health of residents. With more question specificity, a higher proportion of adults (84.2%–86.8%) were found to favor the use of DBS for research, and a lower proportion had no opinion. The odds of favoring use were higher among those who were younger, female, white, healthy, or with at least a high school degree. Conclusions: This is the first population survey of adult attitudes regarding use of DBS for different types of health research, with results showing considerable public support. The findings are being used in community outreach efforts and highlight the need to investigate opposition in vulnerable populations.

We conducted population-based surveys on direct-to-consumer nutrigenomic testing in Michigan, Oregon, and Utah as part of the 2006 Behavioral Risk Factor Surveillance System. Awareness of the tests was highest in Oregon (24.4%) and lowest in Michigan (7.6%). Predictors of awareness were more education, higher income, and increasing age, except among those 65 years or older. Less than 1% had used a health-related direct-to-consumer genetic test. Public health systems should increase consumer and provider education and continue surveillance on direct-to-consumer genetic tests.

Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

Introduction African-American women have higher rates of early-onset breast cancer compared with their Caucasian counterparts; yet, when diagnosed with breast cancer at a young age, they underuse genetic counseling and testing to manage their risk of developing future cancers. Methods Self-reported baseline data were collected between September 2012 and January 2013 and analyzed in 2014 from a subpopulation of 340 African-American young breast cancer survivors (YBCSs) enrolled in an RCT. YBCSs were diagnosed with invasive breast cancer or ductal carcinoma in situ between ages 20 and 45 years and were randomly selected from a statewide cancer registry. Logistic regression examined predictors of using cancer genetics services. Results Overall, 28% of the sample reported having genetic counseling and 21% reported having genetic testing, which were significantly lower ( p ≤0.005) compared with white/other YBCSs participating in the parent study. In a multivariate analysis, income was positively associated with counseling (B=0.254, p ≤0.01) and testing (B=0.297, p ≤0.01), whereas higher education levels (B=−0.328, p ≤0.05) and lack of access to healthcare services owing to cost (B=−1.10, p ≤0.03) were negatively associated with genetic counseling. Lower income and lack of care because of high out-of-pocket costs were commonly reported barriers. Conclusions Despite national recommendations for genetic evaluation among women with early-onset breast cancer, few African-American YBCSs reported undergoing genetic counseling and testing. Most reported that their healthcare provider did not recommend these services. Interventions addressing patient, provider, and structural healthcare system barriers to using genetic counseling and testing in this population are needed.

Telephone counseling can provide a convenient, accessible, and valuable source of information to the general public, health care providers, and other professionals. In the genetic counseling profession, telephone counseling is often associated with teratogen information services. However, genetic counselors routinely utilize the telephone in a number of different counseling encounters. Nevertheless, the literature provides very little guidance to how that encounter might be conducted, what information should be obtained and provided, or how the encounter should be documented. We present a brief overview of the history of telephone counseling, a description of the major differences between telephone counseling and a face-to-face counseling session, and a framework to optimize a telephone counseling session.

State health departments in Michigan, Minnesota, Oregon, and Utah explored the use of genomic information, including family health history, in chronic disease prevention programs. To support these explorations, the Office of Public Health Genomics at the Centers for Disease Control and Prevention provided cooperative agreement funds from 2003 through 2008. The 4 states’ chronic disease programs identified advocates, formed partnerships, and assessed public data; they integrated genomics into existing state plans for genetics and chronic disease prevention; they developed projects focused on prevention of asthma, cancer, cardiovascular disease, diabetes, and other chronic conditions; and they created educational curricula and materials for health workers, policymakers, and the public. Each state’s program was different because of the need to adapt to existing culture, infrastructure, and resources, yet all were able to enhance their chronic disease prevention programs with the use of family health history, a low-tech “genomic tool.” Additional states are drawing on the experience of these 4 states to develop their own approaches.

Background The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer. Methods/design The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20–45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors’ high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors’: a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives’ baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention. Discussion The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics. Trial registration NCT01612338

The development of multiple-marker biochemical screening has increased the percentage of aneuploidies detected for all age groups and has also increased the abnormality/amniocentesis ratio from about 1 in 85 for maternal serum alpha-fetoprotein alone (single screening) to about 1 in 50 for either maternal serum alpha-fetoprotein plus human chorionic gonadotropin (double screening) or maternal serum alpha-fetoprotein combined with human chorionic gonadotropin and unconjugated estriol (triple screening). We evaluated the decisions to have or decline amniocentesis of 985 patients 'at risk' by either single, double, or triple screening, as multiple markers were phased in over a 3-year period. The patient acceptance of the procedure did not change (approximately 80%) either by actual risk or type of biochemical screening. The labeling of 'at risk' status is more important than actual numerical risks, and the patient perception of risk status must be considered in counseling.

INTRODUCTION Comprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics. METHODS We reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans. RESULTS Forty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding. CONCLUSION Incorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

Advances in screening, detection and treatment make Sudden Cardiac Death of the Young (SCDY) a potentially preventable condition. Since hereditary causes account for many deaths, identification of an affected individual has implications for immediate relatives; who should receive targeted screening with the aim of preventing SCDY. To develop a mortality review process for SCDY and to identify potential unmet needs for family-based, medical system and public health interventions. The Michigan Department of Community Health and Michigan State University developed a system for investigating SCDY. Review of medical records and next-of-kin (NOK) interviews were conducted. A de-identified summary of each case was presented to an expert panel. The panel identified factors that contributed to the death and possible actions to prevent future deaths. If the case was deemed to have a likely heritable cause, NOK were notified of a possible increased risk and need for evaluation of immediate family members. Twenty-three deaths aged 1–39 years between 2006 and 2008, were selected for review. Sixteen NOK were interviewed. Several primary and secondary prevention measures were identified, including enhanced pre-participation sports screening; provider education; public awareness of risk factors, symptoms, emergency response training for coaches and the general public; and creation and dissemination of emergency response and medical examiner protocols. Seventeen NOK were notified of the potential heritable cause. Investigation of these deaths has led to identification of individual, family, public and provider needs and motivated policy makers to initiate changes to prevent future SCDY.

This study was undertaken to determine if parental decisions to continue or terminate following the diagnosis of a cytogenetic abnormality have changed over the past 8 years at the same center. Parental decisions in 310 prenatal chromosomal abnormalities were stratified by procedure (chorionic villus sampling [CVS] vs. amniocentesis) and the severity of the anomaly (severe vs mild-moderate). Patients with severe anomalies were much more likely to terminate regardless of gestational age. There was a trend (P = .107) toward a lower rate of termination for mild-moderate degrees in the second trimester. There was no change in patient's decisions over time. Patients' decisions about termination are focused on the severity of the disorder and only marginally influenced by when in gestation the decision is made. © 1996 Wiley-Liss, Inc.

Background: Intrauterine infection with herpes simplex virus (HSV) has been associated with a significant number of neonatal HSV infections. When these infections begin in utero, the associated morbidity is more severe, and treatment regimens may be less effective. Case: A 24-year-old nullipara with an abnormal triple screen and multiple ultrasound abnormalities at 19 weeks’ gestation underwent amniocentesis and cordocentesis. Laboratory results were consistent with HSV infection. The patient elected to terminate the pregnancy, and on postmortem examination of the fetus, evidence of disseminated disease was present. Conclusion: We believe that this case documents a relationship between HSV infection and findings on ultrasound that have previously been described in association with other in utero infections. We suggest that general viral cultures of the amniotic fluid be done when in utero infection is suspected.

Prenatally diagnosed methylmalonic aciduria (MMA) has been treated in only a few fetuses, and has been done empirically with maternally administered cyanocobalamin (B12) in attempts to ameliorate sequelae that include failure to thrive, developmental delay, dehydration, and coma. There has not been a systematic attempt to titrate doses to fetal response. We investigated the alterations in maternal dosage necessary to keep maternal plasma (MP) and urine (MU) levels of MMA in the normal range secondary to the ability of pharmacological doses of B12 to catalyze the reaction of methylmalonyl-coenzyme A to succinyl-coenzyme A.A 28-year-old woman, with a 3-year-old son affected with MMA, underwent amniocentesis at 15 weeks which showed a normal karyotype, elevated amniotic fluid MMA, and decreased amniocyte 5'-deoxyadenosylcobalamin, propionate, and methyl-tetrahydrofolate. MP and MU MMA levels were measured biweekly. B12 doses were altered periodically according to laboratory-determined levels.MP and MU levels varied with gestational age and in response to increases in maternally administered B12.With increasing gestation, fetal, and placental size, increasing doses of B12 are necessary to maintain MP and MU levels of MMA within normal range. The data suggest that close surveillance and frequent measurements of MMA are necessary to properly titrate B12 treatment.

1557 Background: Women who harbor BRCA1/2 mutations are at increased risk for breast and ovarian cancer and are advised to undergo high risk surveillance and/or preventative surgery. The compliance with screening guidelines in these women is not well known. This study aims to evaluate the uptake and screening practices of women with known deleterious BRCA mutations and BRCA true negatives who received genetic counseling in the state of Michigan. Methods: A telephone survey coordinated by the Michigan Department of Community Health was conducted on pts seen at 8 genetics clinics between 10/07 to 10/09. Each center was staffed by board certified genetics professionals who provided pre and post-test genetic counseling. Pts who were found to carry a deleterious BRCA mutation, or to be negative for a known familial mutation, were queried regarding adherence to NCCN guidelines. Results: 138 of 253 (55%) pts responded to the phone survey, with an elapsed time of 1.7 to 4.6 years from post-test counseling session. Among BRCA mutation carriers over age 25 years with no cancer history or mastectomy, 11 of 21 pts (52%) adhered to MRI screening guidelines, 3 pts (14%) reported two MRIs, and 7 (33%) pts had no MRI screening in the preceding year. 18 of 21 pts (86%) reported having a screening mammogram in the preceding year and the remaining 3 had two or more. 8 of 20 (40%) pts had two clinical breast exams. Of the women who had breast cancer and no mastectomy, 5 of 9 (56%) pts did not have MRI screening. Of the BRCA true negatives with no cancer history, CA-125 or transvaginal ultrasound was performed in 7 (19%) and 8 (20%) of 37 pts, respectively. Conclusions: This study reveals sub-optional compliance with screening guidelines in women who were identified to be carriers of BRCA mutations or those who were true negatives, despite pre and post-test genetic counseling and communication of established management guidelines. Some recommended screening measures were under-utilized in BRCA mutation carriers, and some were over-utilized in the true negatives. Additional interventions are needed to improve adherence to evidence-based screening guidelines aimed at promoting early detection, with an emphasis on appropriate utilization of limited healthcare resources.

Background: Couples in which one partner is the carrier of a balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Pregnancies in which both partners carry balanced translocations are uncommon; therefore, only limited information regarding risk figures is available. We present a couple in which both members had a balanced translocation and discuss their pregnancy outcomes. Case: A couple had three first-trimester spontaneous abortions at 12, 10, and S weeks' gestation, respectively. Both partners were found to be carriers of balanced autosomal translocations. The mother had a Robertsonian translocation with the karyotype 45,XX,t(13q14q). The father had a reciprocal translocation with a 46,XY,t(1;4)(q32;q25) karyotype. There was no information regarding the karyotype of the patient's first-born child with a previous partner. The patient's first-born child with her current partner carried a double balanced translocation karyotype of 45,XX,t(13;14)t(1;4). Their second and third children both had a 45,XX, t(13ql4q) karyotype. Conclusion: Couples in which both members have a balanced translocation are at increased risk for adverse pregnancy and fetal outcomes, but precise information regarding risk estimates for this rare circumstance is limited. Genetic counseling of such couples therefore presents a unique challenge.

The Michigan Cancer Genetics Alliance (MCGA) was created in 2003, and facilitated by the MDCH Genomics Program. In parallel, the State Genetics Plan and the Michigan Cancer Strategic Plan identified the need to create MCGA to serve as an organization of cancer genetics professionals with the purposes to promote communication, serve as a source of expert information, and participate in the Michigan Cancer Consortium (MCC). MCGA and cancer genetics received further support by a Centers for Disease Control and Prevention Cooperative Agreement to develop state capacity for integration of genomics into chronic disease prevention programs (♯U58/CCU522826). Highlights of MCGA’s accomplishments include a six-session course entitled, ‘Cancer Genomics for Public Health’, which was created and piloted for the MDCH Cancer Section. Additionally, MCGA has been working to enhance the state’s cancer surveillance system by addition of cancer genetics elements to the state cancer registry. MCGA members have representation on MCC subcommittees that are working to create risk assessment guidelines for breast, colorectal, and prostate cancer. MCGA is also addressing access to care, health disparities and health literacy issues. Michigan’s experience is one model of integrating cancer genomics knowledge into practice through partnerships and the development of projects and collaborations.