Following NCCN guidelines within one hospital system in the United States: Comparison between cancer centers and genetic counselor utilization.

Genetic testing is an instrumental tool used to determine whether an individual has a predisposition to certain cancers. Knowing of a hereditary cancer predisposition may allow a patient and their family to consider high-risk screening or risk-reducing options. Genetic counselors work with physicians to identify patients at increased risk for genetic testing using available guidelines such as those provided by the National Comprehensive Cancer Network (NCCN). Information within one hospital system's cancer registry was used to identify individuals who qualify for genetic testing. This includes patients with a history of cancer of the breast (diagnosis ≤45, triple negative (TN) ≤60, and male), ovaries, colon (diagnosis ≤50), or uterus (diagnosis ≤50). Within this hospital system's registry, there are six cancer centers. Data were collected from cancer centers that utilized genetic counselors (GCs), and cancer centers that did not (non-GC) to determine whether there was a difference in genetic testing rates between GC and non-GC cancer centers. An analysis of 695 patients demonstrated a significantly higher proportion of eligible patients undergoing genetic testing at the GC cancer centers than at the non-GC cancer centers (91.6% versus 68.7%, p < .001). Further analysis of specific cancers showed a significantly higher uptake of genetic testing for eligible patients with colon cancer (90.8% versus 50%, p < .001), breast cancer ≤45 (99.5% versus 86%, p < .001), and ovarian cancer (91.3% versus 62.8%, p < .001) at the GC cancer centers than at the non-GC cancer centers. There was no significant difference in the proportion of testing of TN breast cancer ≤60 or uterine cancer ≤50 between cancer centers. These data suggest that having a GC working within a cancer center increases the ability to identify and offer testing to patients who meet NCCN genetic testing criteria based on their cancer type.

Critical thinking and diagnostic reasoning when assessing problems with the genitourinary system.

Urological conditions have become increasingly common and early diagnosis is key to achieving better outcomes. This article discusses the importance of having a comprehensive understanding of urological disorders, having the skills to interpret relevant information, and recognising the relationships among given elements to make an appropriate clinical diagnosis.

High grade gliomas in young children: The South Thames Neuro-Oncology unit experience and recent advances in molecular biology and targeted therapies.

High grade gliomas (HGG) have a dismal prognosis with survival rates of 15-35%. Approximately 10-12% of pediatric HGG occur in young children and their molecular biology and clinical outcomes differ from those arising at older ages. We report on four children aged <5 years newly diagnosed with non-brainstem HGG between 2011 and 2018 who were treated with surgery and BBSFOP chemotherapy. Two died of tumor progression. The other two are still alive without radiotherapy at 3.8 and 3.9 years from diagnosis: one of whom remains disease-free off treatment; and the other one, whose tumor harbored a KCTD16:NTRK2 fusion, went on to receive larotrectinib. Additionally we review the general management, outcomes and latest updates in molecular biology and targeted therapies for young children with HGG. Infant gliomas can be stratified in molecular subgroups with clinically actionable oncogenic drivers. Chemotherapy-based strategies can avoid or delay the need for radiotherapy in young children with HGG. Harnessing the potential of NTRK, ALK, ROS1 and MET inhibitors offers the opportunity to optimize the therapeutic armamentarium to improve current outcomes for these children.

Consultation and clinical assessment of the genitourinary system for advanced clinical practitioners.

Assessment of symptoms affecting the genitourinary system is in high demand as they can significantly impact on quality of life. Nurses with advanced skills in communication, consultation and specialist knowledge play a key role in improving the experience for patients presenting with genitourinary symptoms.

Implementation and evaluation of the human papillomavirus (HPV) vaccination pilot for men who have sex with men (MSM), England, April 2016 to March 2017.

BACKGROUND: Opportunistic human papillomavirus (HPV) vaccination for men who have sex with men (MSM) was piloted in sexual health clinics (SHC) in England between 2016 and 2018. AIM: to evaluate the pilot's first year (April 2016-March 2017) in terms of feasibility, acceptability, uptake, impact and equity and interpret the outcome in the context of wide HPV vaccination policy. METHODS: Attendance and uptake data from routine SHC surveillance datasets and a cross-sectional survey administered to individuals receiving the vaccine were analysed. RESULTS: Among 18,875 eligible MSM, 8,580 (45.5%) were recorded as having received one HPV vaccine dose, decreasing slightly with increasing age, and uptake was higher in rural than urban areas. Survey results suggested that of those receiving the first dose of HPV vaccine, 8% were new attendees and that among those, less than 11% attended just to receive the vaccine. Of those having their first HPV vaccination, 95% indicated they would like to receive the next vaccine doses at the same clinic and 85% of patients reported accessing other services when visiting SHC for the first dose of vaccine. CONCLUSION: An opportunistic HPV vaccination programme for MSM can be delivered in an acceptable and, as far as can be evaluated, equitable manner, without major disruption to SHC and HIV clinics.

Acute lung injury and persistent small airway disease in a rabbit model of chlorine inhalation.

Chlorine is a pulmonary toxicant to which humans can be exposed through accidents or intentional releases. Acute effects of chlorine inhalation in humans and animal models have been well characterized, but less is known about persistent effects of acute, high-level chlorine exposures. In particular, animal models that reproduce the long-term effects suggested to occur in humans are lacking. Here, we report the development of a rabbit model in which both acute and persistent effects of chlorine inhalation can be assessed. Male New Zealand White rabbits were exposed to chlorine while the lungs were mechanically ventilated. After chlorine exposure, the rabbits were extubated and were allowed to survive for up to 24h after exposure to 800ppm chlorine for 4min to study acute effects or up to 7days after exposure to 400ppm for 8min to study longer term effects. Acute effects observed 6 or 24h after inhalation of 800ppm chlorine for 4min included hypoxemia, pulmonary edema, airway epithelial injury, inflammation, altered baseline lung mechanics, and airway hyperreactivity to inhaled methacholine. Seven days after recovery from inhalation of 400ppm chlorine for 8min, rabbits exhibited mild hypoxemia, increased area of pressure-volume loops, and airway hyperreactivity. Lung histology 7days after chlorine exposure revealed abnormalities in the small airways, including inflammation and sporadic bronchiolitis obliterans lesions. Immunostaining showed a paucity of club and ciliated cells in the epithelium at these sites. These results suggest that small airway disease may be an important component of persistent respiratory abnormalities that occur following acute chlorine exposure. This non-rodent chlorine exposure model should prove useful for studying persistent effects of acute chlorine exposure and for assessing efficacy of countermeasures for chlorine-induced lung injury.

Public health genetic counselors: activities, skills, and sources of learning.

Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of "traditional" genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants (N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers (n = 80, 52 %), (b) Population-Based Screening Programs (n = 70, 45 %), (c) Lobbying/Public Policy (n = 62, 40 %), (d) Public Health Related Research (n = 47, 30 %), and (e) State Chronic Disease Programs (n = 12, 8 %). Regardless of category, "on the job" was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves "public health genetic counselors" do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge.

Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance.

Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer-based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe the impact of MeTree on genetic counseling (GC) referrals and attendance. Non-adopted, English speaking adults scheduled for a well-visit in two community-based primary-care clinics were invited to participate in an Implementation-Effectiveness study of MeTree. Participants' demographic characteristics and beliefs were assessed at baseline. Immediately after an appointment with a patient for whom GC was recommended, clinicians indicated whether they referred the patient and, if not, why. The study genetic counselor kept a database of patients with a GC recommendation and contacted those with a referral. Of 542 patients completing MeTree, 156 (29 %) received a GC recommendation. Of these, 46 % (n = 72) were referred and 21 % (n = 33) underwent counseling. Patient preferences, additional clinical information unavailable to MeTree, and an incomplete clinician evaluation of the FHH accounted for the 85 patients clinicians chose not to refer. Although MeTree identified a significant proportion of patients for whom GC was recommended, persistent barriers indicate the need for improved referral processes and patient and physician education about the benefits of GC.

Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand.

UNLABELLED: The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk-stratified evidence-based prevention guidelines using MeTree, a patient-facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population-level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased-risk status; and the resources needed to manage their risk. STUDY DESIGN: hybrid implementation-effectiveness study of adults with upcoming well-visits in 2 primary care practices in Greensboro, NC. PARTICIPANTS: 1,184, mean age = 58.8, female = 58% (N = 694), non-white = 20% (N = 215). Increased Risk: 44% (N = 523). RECOMMENDATIONS: genetic counseling = 26% (N = 308), breast MRI = 0.8% (N = 10), breast chemoprophylaxis = 5% (N = 58), early/frequent colonoscopies = 19% (N = 221), ovarian cancer screening referral = 1% (N = 14), thrombosis testing/counseling = 2.4% (N = 71). FHH elements: 8 FHH elements lead to 37.3% of the increased risk categorizations (by frequency): first-degree-relative (FDR) with polyps age ≥60 (7.1%, N = 85), three relatives with Lynch-related cancers (5.4%, N = 65), FDR with polyps age <60 (5.1%, N = 61), three relatives on same side of family with same cancer (4.9%, N = 59), Gail score ≥1.66% (4.9%, N = 58), two relatives with breast cancer (one ≤age 50) (4.1%, N = 49), one relative with breast cancer ≤age 40 (4.1%, N = 48), FDR with colon cancer age ≥60 (1.7%, N = 20). MeTree identifies a high percentage of individuals in the general primary care population needing non-routine risk management/prevention for the selected conditions. Implementing risk-stratification in primary care will likely increase demand for related-resources, particularly colon screening and GC. Understanding the prevalence of FHH elements helps predict resource needs and may aid in guideline development.

Quality of family history collection with use of a patient facing family history assessment tool.

BACKGROUND: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a patient facing FHH assessment tool, MeTree. In this paper we report the content and quality of the FHH collected using MeTree. DESIGN: A hybrid implementation-effectiveness study. Patients were recruited from 2009 to 2012. SETTING: Two community primary care clinics in Greensboro, NC. PARTICIPANTS: All non-adopted adult English speaking patients with upcoming appointments were invited to participate. INTERVENTION: Education about and collection of FHH with entry into MeTree. MEASURES: We report the proportion of pedigrees that were high-quality. High-quality pedigrees are defined as having all the following criteria: (1) three generations of relatives, (2) relatives' lineage, (3) relatives' gender, (4) an up-to-date FHH, (5) pertinent negatives noted, (6) age of disease onset in affected relatives, and for deceased relatives, (7) the age and (8) cause of death (Prim Care31:479-495, 2004.). RESULTS: Enrollment: 1,184. Participant demographics: age range 18-92 (mean 58.8, SD 11.79), 56% male, and 75% white. The median pedigree size was 21 (range 8-71) and the FHH entered into MeTree resulted in a database of 27,406 individuals. FHHs collected by MeTree were found to be high quality in 99.8% (N = 1,182/1,184) as compared to <4% at baseline. An average of 1.9 relatives per pedigree (range 0-50, SD 4.14) had no data reported. For pedigrees where at least one relative has no data (N = 497/1,184), 4.97 relatives per pedigree (range 1-50, SD 5.44) had no data. Talking with family members before using MeTree significantly decreased the proportion of relatives with no data reported (4.98% if you talked to your relative vs. 10.85% if you did not, p-value < 0.001.). CONCLUSION: Using MeTree improves the quantity and quality of the FHH data that is collected and talking with relatives prior to the collection of FHH significantly improves the quantity and quality of the data provided. This allows more patients to be accurately risk stratified and offered appropriate preventive care guided by their risk level. TRIAL NUMBER: NCT01372553.

Physical Activity Intervention for Urban Black Women With Asthma: Protocol for a Randomized Controlled Efficacy Study.

BACKGROUND: Black women experience a higher prevalence of poor asthma outcomes and physical inactivity than their White counterparts. Black women comprise a particularly vulnerable group of patients with asthma, with some of the highest rates of asthma in adults, high health care use (emergency department visits and hospitalizations), and the highest crude asthma mortality rate of all race or ethnicity groups. Despite recommendations to engage in regular physical activity, fewer than 15% of Black women meet the 2008 National Physical Activity Guidelines, the lowest of all racial subgroups of adults. Given the connection between physical inactivity and poor asthma outcomes, addressing physical activity among Black women with asthma is imperative. OBJECTIVE: This 2-arm randomized controlled trial aims to (1) determine the efficacy of a lifestyle walking intervention on asthma control compared to an education (control) group over 24 weeks, (2) examine the maintenance effects of the lifestyle walking intervention on asthma control at 48 weeks, (3) explore the behavioral mediators (eg, self-efficacy, social support, self-regulation, and daily physical activity levels) and contextual moderators (eg, baseline asthma severity, neighborhood environment, comorbid conditions, and social determinants of health) that contribute to treatment responsiveness, and (4) assess the reach and implementation potential of the intervention. METHODS: The proposed study (ACTION [A Lifestyle Physical Activity Intervention for Minority Women with Asthma]) delivers a 24-week lifestyle walking intervention designed for and by urban Black women with asthma. Participants (n=224) will be recruited through 2 urban health care systems that care for a diverse Black population. Patients will be randomized to one of two groups: (1) ACTION intervention (group sessions, physical activity self-monitoring-Fitbit, and text-based support for step goal setting) or (2) education control (an individual asthma education session and SMS text messages related to asthma education). Outcome assessments will take place at baseline, 12, 24, and 48 weeks. The primary outcome is a change in asthma control from baseline to week 24 as assessed by the asthma control questionnaire-6 (ACQ-6). Secondary outcomes include asthma-related quality of life, health care use, and asthma exacerbations and behavioral outcomes such as self-efficacy, self-regulation, social support, and physical activity. RESULTS: This study was funded by the National Institute of Minority Health Disparities in August 2022. We pilot-tested our recruitment and intervention procedures and began recruitment in April 2023, with the enrollment of our first participant in May 2023. The anticipated completion of the study is April 2027. CONCLUSIONS: This study will deliver a new approach to physical activity interventions in Black women with asthma and help to provide guidance for addressing physical activity within this subgroup. This study will also provide a potential framework for future studies in minoritized populations with other disease conditions associated with low levels of physical activity. TRIAL REGISTRATION: ClinicalTrials.gov NCT05726487; https://clinicaltrials.gov/study/NCT05726487. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/55700.

Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial.

BACKGROUND: Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree, that uses risk stratification to generate clinical decision support for breast cancer, colorectal cancer, ovarian cancer, hereditary cancer syndromes, and thrombosis. Here we present data on the experience of patients and providers after integration of MeTree into 2 primary care practices. METHODS: This was a Type 2 hybrid controlled implementation-effectiveness study in 3 community-based primary care clinics in Greensboro, NC. All non-adopted adult English speaking patients with upcoming routine appointments were invited. Patients were recruited from December 2009 to the present and followed for one year. Ease of integration of MeTree into clinical practice at the two intervention clinics was evaluated through patient surveys after their appointment and at 3 months post-visit, and physician surveys 3 months after tool integration. RESULTS: Total enrollment =1,184. Average time to complete MeTree = 27 minutes. Patients found MeTree: easy to use (93%), easy to understand (97%), useful (98%), raised awareness of disease risk (85%), and changed how they think about their health (86%). Of the 26% (N = 311) asking for assistance to complete the tool, age (65 sd 9.4 vs. 57 sd 11.8, p-value < 0.00) and large pedigree size (24.4 sd 9.81 vs. 22.2 sd 8.30, p-value < 0.00) were the only significant factors; 77% of those requiring assistance were over the age of 60. Providers (N = 14) found MeTree: improved their practice (86%), improved their understanding of FHH (64%), made practice easier (79%), and worthy of recommending to their peers (93%). CONCLUSIONS: Our study shows that MeTree has broad acceptance and support from both patients and providers and can be implemented without disruption to workflow.

Collection of family health history for assessment of chronic disease risk in primary care.

BACKGROUND: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care. METHODS: Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk. RESULTS: More than 99% of the 390 paper charts analyzed contained information about family health history, which was usually scattered throughout the chart. Information on the health of the patient's parents was collected more often than information on the health of other relatives. Key information that was often not collected included age of disease onset, affected side of the family, and second-degree relatives affected. Less than 4% of patient charts included family health histories that were informative enough to accurately assess risk for common complex diseases. LIMITATIONS: Limitations of this study include the small number of charts reviewed per provider, the fact that the sample consisted of primary care providers in a single geographic location, and the inability to assess ethnicity, consanguinity, and other indicators of the informativeness of family health history. CONCLUSIONS: The family health histories collected in primary care are usually not complete enough to assess the patient's risk for common complex diseases. This situation could be improved with use of tools that analyze the family health history information collected and provide risk-stratified decision support recommendations for primary care.

Development and validation of a primary care-based family health history and decision support program (MeTree).

INTRODUCTION: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice. To address barriers to collection and use of family health histories, the Genomedical Connection developed and validated MeTree, a Web-based, patient-facing family health history collection and clinical decision support tool. MeTree is designed for integration into primary care practices as part of the genomic medicine model for primary care. METHODS: We describe the guiding principles, operational characteristics, algorithm development, and coding used to develop MeTree. Validation was performed through stakeholder cognitive interviewing, a genetic counseling pilot program, and clinical practice pilot programs in 2 community-based primary care clinics. RESULTS: Stakeholder feedback resulted in changes to MeTree's interface and changes to the phrasing of clinical decision support documents. The pilot studies resulted in the identification and correction of coding errors and the reformatting of clinical decision support documents. MeTree's strengths in comparison with other tools are its seamless integration into clinical practice and its provision of action-oriented recommendations guided by providers' needs. LIMITATIONS: The tool was validated in a small cohort. CONCLUSION: MeTree can be integrated into primary care practices to help providers collect and synthesize family health history information from patients with the goal of improving adherence to risk-stratified evidence-based guidelines.

Identification of a marker of infection in the breath using a porcine pneumonia model.

Objective: Pneumonia, both in the community and the hospital setting, represents a significant cause of morbidity and mortality in the cardiothoracic patient population. Diagnosis of pneumonia can be masked by other disease processes and is often diagnosed after the patient is already experiencing the disease. A noninvasive, sensitive test for pneumonia could decrease hospitalizations and length of stay for patients. We have developed a porcine model of pneumonia and evaluated the exhaled breath of infected pigs for biomarkers of infection. Methods: Anesthetized 60-kg adult pigs were intubated, and a bronchoscope was used to instill a solution containing 12 × 108 cfu of methicillin-sensitive Staphylococcus aureus or a control solution without bacteria (Sham) into the distal airways. The pigs were then reintubated on postoperative days 3, 6, and 9, with bronchoscopic bronchial lavages taken at each time point. At each time point, a 500-mL breath was captured from each pig. The breath was evacuated over a silicon microchip, with the volatile carbonyl compounds from the breath captured via oximation reaction, and the results of this capture were analyzed by ultra-high performance liquid chromatography mass spectrometry. Results: A total of 64% of the pigs inoculated with methicillin-sensitive S. aureus demonstrated consolidation on chest radiography and increasing counts of methicillin-sensitive S. aureus in the bronchial lavages over the span of the experiment, consistent with development of pneumonia. Analysis of the exhaled breath demonstrated 1 carbonyl compound (2-pentenal) that increased 10-fold over the span of the experiment, from an average of 0.0294 nmol/L before infection to an average of 0.3836 nmol/L on postoperative day 9. The amount of 2-pentenal present was greater in the breath of infected pigs than in the noninfected pigs or the sham inoculated pigs at postoperative days 6 and 9. Using an elevated concentration of 2-pentenal as a marker of infection yielded a sensitivity of 88% and specificity of 92% at postoperative day 6, and a sensitivity and specificity of 100% at postoperative day 9. Conclusions: We were able to successfully develop a clinical pneumonia in adult 60-kg pigs. The concentration of 2-pentenal correlated with the presence of pneumonia, demonstrating the potential for this compound to function as a biomarker for methicillin-sensitive S. aureus infection in pigs.

Risk for ingestion of toxic substances in children with Prader-Willi syndrome.

Individuals with Prader-Willi syndrome (PWS) have several common findings that may predispose to ingestion of potentially dangerous items. This study examined whether individuals with PWS have an increased prevalence of toxic ingestions. A survey regarding history of ingestions in PWS individuals and sibling controls was designed, piloted, and distributed on-line. The subjects were individuals with PWS (N = 129). The subjects' non-PWS siblings served as controls (N = 134). Participants who completed the anonymous online survey were either the parents or the primary caretaker of individuals with PWS. Responses were submitted by 141 participants, providing information about 130 PWS subjects (M/F: 66:64) and 134 sibling controls. Subjects and controls ranged in age from 2 to 18 years at the time of the survey. Eleven participants did not answer the questions regarding ingestions. History of toxic ingestion was more prevalent in PWS subjects (20% vs. 2% of controls). Several features of PWS, including history of searching for food and eating unusual objects, along with decreased cognitive ability, appeared to associate with increased prevalence of toxic ingestion in PWS individuals. PWS children appear to have an ∼12-fold increased risk of ingesting toxins compared to the general population. Geneticists should include this information in counseling and in recommendations to primary care providers. Also, poison control centers need to be aware of this association and of the physiological and behavioral aspects of PWS that may complicate the diagnosis and management of a toxic ingestion.

Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing.

The purpose of this study was to assess primary care physicians' awareness, experience, opinions and preparedness to answer patients' questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.

Educational needs of primary care physicians regarding direct-to-consumer genetic testing.

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient's questions and manage their care should be used when creating educational programs.

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.

Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary fibrosis in whom inherited gene variation predisposes them to disease development. In the appropriate setting, genetic testing allows for personalized assessment of disease, recognition of clinically relevant extrapulmonary manifestations, and assessing susceptibility in unaffected relatives. However currently, the use of genetic testing is inconsistent, partly because of the lack of guidance regarding high-yield scenarios in which the results of genetic testing can inform clinical decision-making. To address this, the Pulmonary Fibrosis Foundation commissioned a genetic testing work group comprising pulmonologists, geneticists, and genetic counselors from the United States to provide guidance on genetic testing in patients with pulmonary fibrosis. This CHEST special feature presents a concise review of these proceedings and reviews pulmonary fibrosis susceptibility, clinically available genetic testing methods, and clinical scenarios in which genetic testing should be considered.