A5065544549- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Diet and metabolism studies
- Nutritional Studies and Diet
- Vitamin D Research Studies
- Lipoproteins and Cardiovascular Health
- Bone health and osteoporosis research
- Antiplatelet Therapy and Cardiovascular Diseases
- Diet, Metabolism, and Disease
- Cerebral Palsy and Movement Disorders
- Cancer, Lipids, and Metabolism
- Obesity and Health Practices
- Genetic factors in colorectal cancer
- Cancer Risks and Factors
- Cancer Genomics and Diagnostics
- Liver Disease Diagnosis and Treatment
- Balance, Gait, and Falls Prevention
- Pharmaceutical studies and practices
- Nutrition and Health in Aging
- Acute Myocardial Infarction Research
- Obesity, Physical Activity, Diet
- Prenatal Screening and Diagnostics
- Vitamin C and Antioxidants Research
- Bipolar Disorder and Treatment
Harvard Pilgrim Health Care
2021-2025
Harvard University
2013-2025
Brigham and Women's Hospital
2017-2023
University of South Dakota
2023
Boston University
2010-2019
Massachusetts General Hospital
2013
Wayne State University
2013
Indiana University – Purdue University Indianapolis
2013
Indiana State Department of Health
2013
University of Pennsylvania
2006
Experimental and epidemiological studies suggest a protective role for vitamin D in colorectal carcinogenesis, but evidence is inconclusive. Circulating 25-hydroxyvitamin (25(OH)D) concentrations that minimize risk are unknown. Current Institute of Medicine (IOM) guidance based solely on bone health.
Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been ascertained. Objective To query about their on NBSeq and gene-disease pairs they consider appropriate to evaluate in apparently healthy newborns. Design, Setting, Participants This survey study, designed...
Genetic testing has the potential to revolutionize primary care, but few health systems have developed infrastructure support precision population medicine applications or attempted evaluate its impact on patient and provider outcomes. In 2018, Sanford Health, nation’s largest rural nonprofit care system, began offering genetic patients. To date, more than 11,000 patients participated in Chip Program, over 90% of whom been identified with at least one informative pharmacogenomic variant,...
Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes PeopleSeq Consortium, a multi-cohort collaboration sequencing projects, which is examining medical, behavioral, economic returning genomic information to individuals. Apparently adults who participated in four projects Consortium were included. Web-based surveys administered before after results disclosure, or some cases only disclosure. Surveys...
Abstract Objective The objective of this study was to examine the representation historically marginalized racial and ethnic groups in pediatric obesity clinical trials. Methods We performed a cross‐sectional analysis trials (participants aged ≤18 years) that were registered ClinicalTrials.gov , completed from January 2013 August 2023, conducted United States. quantified disparities trial enrollment by calculating enrollment‐prevalence disparity (EPD) for each group. Results A total 260 met...
Purpose Observational studies have demonstrated increased colon cancer recurrence and mortality in states of excess energy balance, as denoted by factors including sedentary lifestyle, diabetes, dietary glycemic load, intake sugar-sweetened beverages. Nonetheless, the relation between artificially sweetened beverages, a popular alternative for survival is unknown. Methods We analyzed data from 1,018 patients with stage III who prospectively reported during after chemotherapy while enrolled...
To understand how attitudes toward pharmacogenomic (PGx) testing among healthcare providers varies by specialty.
Abstract Introduction The safety of predicting conversion from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia using apolipoprotein E ( APOE ) genotyping is unknown. Methods We randomized 114 individuals with MCI receive estimates 3‐year risk AD informed by (disclosure arm) or not (non‐disclosure in a non‐inferiority clinical trial. Primary outcomes were anxiety and depression scores. Secondary included other psychological measures. Results Upper confidence limits for...
Although hyperinsulinemia is hypothesised to be involved in colorectal carcinogenesis, it remains unclear whether a diet inducing an elevated insulin response influences cancer (CRC) survival.We examined the association of post-diagnosis dietary scores with survival among 2006 patients from two large prospective cohorts who were diagnosed CRC 1976 2010. Dietary load was calculated as function food index. index by dividing total energy intake. Cox proportional hazards models used calculate...
Accumulating evidence suggests that post-diagnostic insulin levels may influence colorectal cancer (CRC) survival. Yet, no previous study has examined CRC survival in relation to a diet rich foods increase post-prandial levels. We hypothesized glycemic and scores (index or load; derived from food frequency questionnaire data) be associated with specific subtypes sensitive the signaling pathway. prospectively followed 1,160 patients Nurses' Health Study (1980-2012) Professionals Follow-Up...
Background: We developed preference-based and summated scale scoring for the Testing Morbidities Index (TMI) classification, which addresses short-term effects on quality of life from diagnostic testing before, during, after procedures. Methods: The two TMI preference functions use multiattribute value techniques; one is patient-based other has a societal perspective, informed by 206 breast biopsy patients 466 (societal) subjects. Because lack standard methods this application, we used...
Background: SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin. Methods: The authors conducted retrospective chart review on 20,341 patients who had genotyping quantify the uptake clinical decision support (CDS) for genetic impact SAMS risk. Results: A total 182 417 CDS alerts generated, and 150 these (82.4%) received pharmacotherapy that did not increase risks SAMS. Providers were more likely cancel simvastatin orders in...
Osteoporosis is a major public health problem. Diet an important modifiable risk factor for the prevention of osteoporosis. While vitamin D has received significant attention, emerging evidence indicates that other vitamins also play role in skeletal health. This Perspective highlights current understanding non-D (A, B, C, E, and K) bone adults. Several studies A (pre-formed retinol) have reported excessive negative effects on bone. Yet, pro-vitamin carotenoids, which can convert into...
Mucopolysaccharidosis, type 1 (MPS1), a lysosomal disorder caused by pathogenic variants in IDUA, was added to the United States Recommend Universal Screening Panel for newborn screening (NBS) 2015. Positive NBS results MPS1 are commonly due IDUA known as "pseudodeficiency alleles," which decrease alpha-L-iduronidase enzyme activity on vitro assays but assumed provide sufficient vivo biological activity. Although patients with pseudodeficiency alleles do not manifest severe neurologic,...
Abstract Familial communication of results and cascade genetic testing (CGT) can extend the benefits screening beyond patient to their at‐risk relatives. While an increasing number health systems are offering as elective clinical service, data limited about how often shared lead CGT. From 2018 2022, Sanford Health system offered Chip, genomic test that included for medically actionable predispositions disease recommended by American College Medical Genetics Genomics secondary findings...
Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) at the forefront test initiation, patient education, EGT results. However, little research has examined experiences PCPs systems offering clinical EGT. We conducted semi-structured interviews, sub-study larger mixed-methods Imagenetics Initiative,...