Yolanda Martins

Oncologists' and Cancer Patients' Views on Whole-Exome Sequencing and Incidental Findings: Results from The CanSeq Study

Purpose:Although targeted sequencing improves outcomes for many cancer patients, it remains uncertain how somatic and germ-line whole-exome sequencing (WES) will integrate into care.Methods:We conducted surveys and interviews within a study of WES integration at an academic center to determine oncologists’ attitudes about WES and to identify lung and colorectal cancer patients’ preferences for learning WES findings.Results:One-hundred sixty-seven patients (85% white, 58% female, mean age 60) and 27 oncologists (22% female) participated. Although oncologists had extensive experience ordering somatic tests (median 100/year), they had little experience ordering germ-line tests. Oncologists intended to disclose most WES results to patients but anticipated numerous challenges in using WES. Patients had moderately low levels of genetic knowledge (mean 4 correct out of 7). Most patients chose to learn results that could help select a clinical trial, pharmacogenetic and positive prognostic results, and results suggesting inherited predisposition to cancer and treatable noncancer conditions (all ≥95%). Fewer chose to receive negative prognostic results (84%) and results suggesting predisposition to untreatable noncancer conditions (85%).Conclusion:The majority of patients want most cancer-related and incidental WES results. Patients’ low levels of genetic knowledge and oncologists’ inexperience with large-scale sequencing present challenges to implementing paired WES in practice.Genet Med 18 10, 1011–1019.

Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group

The routine use of genomic sequencing in clinical medicine has the potential to dramatically alter patient care and medical outcomes. To fully understand the psychosocial and behavioral impact of sequencing integration into clinical practice, it is imperative that we identify the factors that influence sequencing-related decision making and patient outcomes. In an effort to develop a collaborative and conceptually grounded approach to studying sequencing adoption, members of the National Human Genome Research Institute’s Clinical Sequencing Exploratory Research Consortium formed the Outcomes and Measures Working Group. Here we highlight the priority areas of investigation and psychosocial and behavioral outcomes identified by the Working Group. We also review some of the anticipated challenges to measurement in social and behavioral research related to genomic sequencing; opportunities for instrument development; and the importance of qualitative, quantitative, and mixed-method approaches. This work represents the early, shared efforts of multiple research teams as we strive to understand individuals’ experiences with genomic sequencing. The resulting body of knowledge will guide recommendations for the optimal use of sequencing in clinical practice.Genet Med 16 10, 727–735.

Differing Attitudes Toward Fetal Care by Pediatric and Maternal-Fetal Medicine Specialists

OBJECTIVES: The expansion of pediatric-based fetal care raises questions regarding pediatric specialists’ involvement in pregnancies when maternal conditions may affect pediatric outcomes. For several such conditions, we compared pediatric and obstetric specialists’ attitudes regarding whether and when pediatrics consultation should be offered and their views about seeking court authorization to override maternal refusal of physician recommendations. METHODS: We used a mail survey of 434 maternal-fetal medicine specialists (MFMs) and fetal care pediatric specialists (FCPs) (response rate: MFM, 60.9%; FCP, 54.2%). RESULTS: FCPs were more likely than MFMs to indicate that pediatric counseling should occur before decisions regarding continuing or interrupting pregnancies complicated by maternal alcohol abuse (FCP versus MFM: 63% vs 36%), cocaine abuse (FCP versus MFM: 60% vs 32%), use of seizure medications (FCP versus MFM: 62% vs 33%), and diabetes (FCP versus MFM: 56% vs 27%) (all P < .001). For all conditions, MFMs were more than twice as likely as FCPs to think that no pediatric specialist consultation was ever necessary. FCPs were more likely to agree that seeking court interventions was appropriate for maternal refusal to enter a program to discontinue cocaine use (FCP versus MFM: 72% vs 33%), refusal of azidothymidine to prevent perinatal HIV transmission (80% vs 41%), and refusal of percutaneous transfusion for fetal anemia (62% vs 28%) (all P < .001). CONCLUSIONS: Pediatric and obstetric specialists differ considerably regarding pediatric specialists’ role in prenatal care for maternal conditions, and regarding whether to seek judicial intervention for maternal refusal of recommended treatment.

Prospective international validation of the Quality of Life in Myelodysplasia Scale (QUALMS)

Disease-specific measures of quality of life can improve assessment of disease-related symptoms and psychosocial sequelae. We report on the development and validation of the Quality of Life in Myelodysplasia Scale (QUALMS), a 38-item assessment tool for patients with myelodysplastic syndromes (MDS). In 2014–2015, a multi-center cohort of patients with myelodysplasia completed the QUALMS, as well as the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ-C30) and the Functional Assessment of Cancer Therapy Anemia Scale (FACT-An); a second administration was undertaken three to six months later. A total of 255 patients from the United States, Canada and Italy participated. Median age was 72 years, 56.1% were men, and the International Prognostic Scoring System distribution was 40.4% low, 42.0% intermediate-1, 13.3% intermediate-2 and 2.3% high. QUALMS scores ranged from 24 to 99 (higher scores are better), with a mean of 67.2 [standard deviation (SD)=15.2]. The measure was internally consistent (α=0.92), and moderately correlated with the multi-item QLQ-C30 scales and the FACT-An (r=−0.65 to 0.79; all P<0.001). Patients with hemoglobin of 8 g/dL or under scored lower than those with hemoglobin over 10 g/dL (61.8 vs. 71.1; P<0.001), and transfusion-dependent patients scored lower than transfusion-independent patients (62.4 vs. 69.7; P<0.01). Principal components analysis revealed “physical burden”, “benefit-finding”, and “emotional burden” subscales. There was good overall test-retest reliability among those with stable hemoglobin (r=0.81), and significant changes for patients hospitalized or with infections between administrations (both P<0.01). These data suggest the QUALMS is a valuable tool for assessing MDS-specific quality of life in the modern treatment era.

Does professional orientation predict ethical sensitivities? Attitudes of paediatric and obstetric specialists toward fetuses, pregnant women and pregnancy termination

Background To determine (1) whether fetal care paediatric (FCP) and maternal–fetal medicine (MFM) specialists harbour differing attitudes about pregnancy termination for congenital fetal conditions, their perceived responsibilities to pregnant women and fetuses, and the fetus as a patient and (2) whether self-perceived primary responsibilities to fetuses and women and views about the fetus as a patient are associated with attitudes about clinical care. Methods Mail survey of 434 MFM and FCP specialists (response rates 60.9% and 54.2%, respectively). Results MFMs were more likely than FCPs to disagree with these statements (all p values<0.005): (1) ‘the presence of a fetal abnormality is not an appropriate reason for a couple to consider pregnancy termination’ (MFM : FCP—78.4% vs 63.5%); (2) ‘the effects that a child born with disabilities might have on marital and family relationships is not an appropriate reason for a couple to consider pregnancy termination’ (MFM : FCP—80.5% vs 70.2%); and (3) ‘the cost of healthcare for the future child is not an appropriate reason for a couple to consider pregnancy termination’ (MFM : FCP—73.5% vs 55.9%). 65% MFMs versus 47% FCPs disagreed that their professional responsibility is to focus primarily on fetal well-being (p<0.01). Specialists did not differ regarding the fetus as a separate patient. Responses about self-perceived responsibility to focus on fetal well-being were associated with clinical practice attitudes. Conclusions Independent of demographic and sociopolitical characteristics, FCPs and MFMs possess divergent ethical sensitivities regarding pregnancy termination, pregnant women and fetuses, which may influence clinical care.

Overcoming challenges to develop pediatric postgraduate training programs in low- and middle-income countries

Background: Interest is growing in strengthening postgraduate medical education in low-income countries. The purpose of this study was to understand how postgraduate pediatric training programs are developed in countries with no or few pediatric training opportunities. The authors sought to describe and compare a purposive sample of such new programs, and identify challenges and solutions for successful program establishment and sustainability. Methods: The authors queried national pediatric email lists and the Accreditation Council for Graduate Medical Education (ACGME) accredited pediatric residency programs in the United States to identify four pediatric training programs that met study criteria. All four programs responded to a questionnaire with quantitative and qualitative components. Qualitative responses were analyzed for themes. Results: Four centers - in Kenya, Laos, Eritrea and Cambodia - met study criteria. Reported challenges to program development and sustainability centered on faculty development and retention, training in pediatric subspecialties, creating pipelines for applicants and graduates, and funding. These themes were used to develop a logic model, which provides a framework for planning, implementing and evaluating new postgraduate general pediatric training program in low-income countries. Discussion: This study compares four postgraduate general pediatric training programs that were recently established and now continue to graduate pediatric residents in low-income countries. Lessons derived from these programs may help guide practice and research for other centers seeking to establish similar programs.

Experts' perspectives on the role of medical marijuana in oncology: A semistructured interview study

Expansion of medical marijuana (MM) laws in the United States may offer oncology new therapeutic options. However, the scientific evidence for MM remains in infancy. This study qualitatively explored professional opinion around the role of MM in cancer care.

Abstract A28: Closing the disparity gap: Attributes of patients referred to a community cancer program

Background: Evidence suggests that the experience of cancer differs across racial and ethnic underserved populations. We describe the referral patterns and clinical characteristics of patients receiving care at Dana-Farber Cancer Institute9s clinical outreach community cancer program, an initiative established to improve access to quality cancer care across the spectrum of the disease for medically underserved patients. Methods: Two hundred and twenty five patients, receiving care at our community cancer care site, based within a Federally Qualified Health Center in Boston, were consented to research and enrolled between January 2012 and June 2015. The program accommodates all oncology and hematology referrals from primary care providers (PCP) at the health center. Variables of interest were collected through medical chart review and a patient intake survey that was developed for the program, and included age, gender, ethnicity, health insurance coverage, reasons for referral, presence of co-morbidity (defined by the International Classification of Disease-9th edition codes) and type of resolution attained. Due to the wide range of services provided by the program, resolution was defined as the number of days from the patient9s initial appointment with an oncologist at the center until one of the following events occurred: an initial appointment with a medical specialist at the Dana-Farber Cancer Institute/Brigham and Women9s Hospital (DFCI/BWH) to establish a treatment plan; establishment of a surveillance plan; or direction back to his or her PCP. Descriptive statistical analysis was performed using JMP Pro (version 11, SAS Institute Inc., Cary, NC) Results: The mean age of the study population was 52 (SD±13.9) years and 44% were men. The majority of participants (70%) were Blacks/African Americans, 15% were Hispanic Whites, 11% were non-Hispanic Whites and 1% were two or more races. Forty eight percent had Medicaid insurance, 24% had Medicare while 13% and 15% had other public and private insurance, respectively. The reasons for referral include hematologic consultation (22%), evaluation for cancer (20%), cancer genetics counseling and testing (20%), lung cancer screening/smoking cessation counseling (19%), follow up care for cancer (15%), cancer treatment (1%) and others (2%). Of the 54 participants with a cancer diagnosis, 76% were previously diagnosed elsewhere and the most common cancer sites were prostate (35%) breast (13%) and colon/rectum (11%). Hypertension (52%), diabetes (31%) and psychological disorders (22%) were the most frequent co-morbidities in participants with cancer. Surveillance plans were established for 44% of genetic counseling/ testing referrals and 86% of lung cancer screening referrals. Those requiring treatment (33%) and active surveillance (43%) plans for cancer had a median time to resolution of 17 (SD±91.1) days and 12(SD±34.5) days, respectively. Overall, treatment plans were required for 9% of participants, 55% had surveillance plans established while 34% were directed back to their PCP for continued care and only 2% of referrals were unresolved. Conclusion: Our findings highlight the wide spectrum of cancer care concerns and needs in underserved populations receiving care within the community. Interventions targeted at eliminating cancer disparities should take into account services that span the continuum of care from prevention to survivorship. Citation Format: Ruth N. Akindele, Ludmila A. Svoboda, Yolanda Martins, Rachel A. Freedman, Aymen Elfiky, Suzanne T. Berlin, Christopher S. Lathan. Closing the disparity gap: Attributes of patients referred to a community cancer program. [abstract]. In: Proceedings of the Eighth AACR Conference on The Science of Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; Nov 13-16, 2015; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2016;25(3 Suppl):Abstract nr A28.

Development and implementation of a longitudinal quality assessment for community outreach programs.

235 Background: Part of Dana-Farber Cancer Institutes mission is to educate the community and raise awareness about the importance of cancer prevention, outreach, screening, early detection, clinical trials and survivorship. Development of a logic model and evaluation plan enables us to assess program quality and identify areas for improvement and future outreach. METHODS A forward logic, iterative approach was used to develop logic models for our community outreach programs. Models were reviewed by key stakeholders including program staff and management. These were used as the basis for a comprehensive logic model encompassing the common elements across all programs. RESULTS Seven logic models were developed to capture work in tobacco, sun safety, breast health, obesity prevention, community education programs, as well as comprehensive community benefits program model. We designed a developmental evaluation to allow for an assessment that could be adapted in a dynamic, ever-changing environment. This approach is also responsive to program growth and changes. It measures demographic information about our community participants, satisfaction with our programs, and strength of our community partnerships and compares these to internal benchmarks and state information. We can re-contact participants for on-going assessments and provide cross-sectional and longitudinal reports. RedCap freeware was used to create online versions of all tracking measures. Since (date) we have captured information from 119 community participants, most of whom are Black and Latino/a, and are representative of traditionally underserved minorities. CONCLUSIONS Logic models and evaluation plans are integral components of community outreach programming. They ensure that effective, high-quality community outreach programming is being delivered, allow for the assessment of impact and assessment against program benchmarks. More importantly, they provide continuous information about areas for program growth and improvement.