Read by QxMD icon Read

Public Health Genomics

J Scott Roberts, Michele C Gornick, Deanna Alexis Carere, Wendy R Uhlmann, Mack T Ruffin, Robert C Green
BACKGROUND/AIMS: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. METHODS: Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results. RESULTS: Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%)...
January 10, 2017: Public Health Genomics
Kym M Rae, Steve Grimson, Kirsty G Pringle
Personalised medicine is a newly emerging field with much to offer to all populations in improved clinical treatment options. Since the 1970s, clinicians and researchers have all been working towards improving the health of Indigenous Australians. However, there has been little research on the impact of genetics on Indigenous health, how genetic and environmental factors interact to contribute to poor health in Indigenous people, and how genetic factors specific to Indigenous people affect their responses to particular treatments...
January 6, 2017: Public Health Genomics
Natalia I Heredia, Sarah Krasny, Larkin L Strong, Laura Von Hatten, Lynne Nguyen, Belinda M Reininger, Lorna H McNeill, María E Fernández
BACKGROUND: Most biospecimens in the US are collected from non-Hispanic Whites, limiting the generalizability of findings. There is a need to increase participation in biobanking among ethnic and racial minorities. The purpose of this study was to use qualitative methods to identify factors that may influence Mexican-American individuals' willingness to participate in biobanking. METHODS: We conducted 15 focus groups in three Texas cities with Mexican-American individuals, in both Spanish and English...
December 8, 2016: Public Health Genomics
(no author information available yet)
No abstract text is available yet for this article.
September 20, 2016: Public Health Genomics
Chee-Seng Ku, David N Cooper, George P Patrinos
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discoveries of heritable germline mutations and de novo mutations for rare Mendelian disorders with hitherto unknown genetic aetiologies. Exome sequencing is an efficient tool to identify disease mutations without the need of a multi-generational pedigree. Sequencing a single proband or multiple affected individuals has been shown to be successful in identifying disease mutations, but parents would be required in the case of de novo mutations...
2016: Public Health Genomics
Susan W Groth, Ann Dozier, Margaret Demment, Dongmei Li, I Diana Fernandez, Jack Chang, Timothy Dye
BACKGROUND: Genomic research has innumerable benefits. However, if people are unwilling to participate in genomic research, application of knowledge will be limited. This study examined the likelihood of respondents from a high- and a low- to middle-income country to participate in genetic research. METHODS: Cross-sectional data were collected using Amazon's Mechanical Turk workforce to ascertain attitudes toward participation in genetic research. Registered country of residence was either the US (n = 505) or India (n = 505)...
2016: Public Health Genomics
Susan L Stewart, Celia P Kaplan, Robin Lee, Galen Joseph, Leah Karliner, Jennifer Livaudais-Toman, Rena J Pasick
BACKGROUND/AIMS: We compared the 6-Point Scale, a screening tool to identify low-income women for referral to genetic counseling, with genetic counselors' (GCs') recommendation and the Referral Screening Tool (RST). METHODS: RST and 6-Point Scale scores were computed for 2 samples: (1) S1, public hospital mammography clinic patients in 2006-2010 (n = 744), classified by GCs as high risk (meriting referral to counseling) or not high risk, and (2) S2, primary care patients enrolled in an education intervention study in 2011-2012 (n = 1,425)...
2016: Public Health Genomics
Paolo Prontera, Ilenia Isidori, Valeria Mencarini, Guido Pennoni, Amedea Mencarelli, Gabriela Stangoni, Giuseppe Di Cara, Alberto Verrotti
Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a previous survey of Italian CF patients, Umbria (a small region with about 900,000 inhabitants) was excluded due to the low number of chromosomes tested (<50), we have performed a comprehensive retrospective clinical and molecular survey of 62 CF patients coming from this region. We have summarized all the genotypic and phenotypic data in a table, and we interviewed the older patients in order to obtain a comprehensive overview of their conditions...
2016: Public Health Genomics
Athanassios Vozikis, David N Cooper, Christina Mitropoulou, Manousos E Kambouris, Angela Brand, Vita Dolzan, Paolo Fortina, Federico Innocenti, Ming Ta Michael Lee, Lada Leyens, Milan Macek, Fahd Al-Mulla, Barbara Prainsack, Alessio Squassina, Domenica Taruscio, Ron H van Schaik, Effy Vayena, Marc S Williams, George P Patrinos
This paper aims to provide an overview of the rationale and basic principles guiding the governance of genomic testing services, to clarify their objectives, and allocate and define responsibilities among stakeholders in a health-care system, with a special focus on the EU countries. Particular attention is paid to issues pertaining to pricing and reimbursement policies, the availability of essential genomic tests which differs between various countries owing to differences in disease prevalence and public health relevance, the prescribing and use of genomic testing services according to existing or new guidelines, budgetary and fiscal control, the balance between price and access to innovative testing, monitoring and evaluation for cost-effectiveness and safety, and the development of research capacity...
2016: Public Health Genomics
Amanda R Burnham-Marusich, Chinenye O Ezeanolue, Michael C Obiefune, Wei Yang, Alice Osuji, Amaka G Ogidi, Aaron T Hunt, Dina Patel, Echezona E Ezeanolue
BACKGROUND/AIMS: Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and their male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. METHODS: We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI)...
2016: Public Health Genomics
Serena Oliveri, Gabriella Pravettoni, Chiara Fioretti, Mats G Hansson
Health-care systems as well as legislators and society seem largely unprepared to face and manage the massive production of genetic risk information. Ethics committees and professional bodies usually do not involve the individuals directly concerned in defining guidelines for genetic risk communication. Therefore, they do not always reflect people's needs and preferences. We argue in this article that we currently experience a cultural shift in medicine where individuals' concerns and preferences regarding genetic risk information are playing a more significant role than before, and that this should have some normative implications...
2016: Public Health Genomics
Simone M Karam, Aluísio J D Barros, Alícia Matijasevich, Iná S Dos Santos, Luciana Anselmi, Fernando Barros, Sandra Leistner-Segal, Têmis M Félix, Mariluce Riegel, Sharbel W Maluf, Roberto Giugliani, Maureen M Black
BACKGROUND: Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. AIMS: To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). METHODS: In 2004, maternity hospitals were visited daily and births were identified...
2016: Public Health Genomics
Travis Hyams, Deborah J Bowen, Celeste Condit, Jeremy Grossman, Megan Fitzmaurice, Deborah Goodman, Lari Wenzel, Karen L Edwards
BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min...
2016: Public Health Genomics
Duaa Olwi, Leena Merdad, Eman Ramadan
BACKGROUND: Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. METHODS: A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia...
2016: Public Health Genomics
Anne Kuijer, Kay Schreuder, Sjoerd G Elias, Carolien H Smorenburg, Emiel J T Rutgers, Sabine Siesling, Thijs van Dalen
BACKGROUND: Breast cancer guidelines suggest the use of gene expression profiles (GEPs) in estrogen receptor-positive (ER+) breast cancer patients in whom controversy exists regarding adjuvant chemotherapy benefit based on traditional prognostic factors alone. We evaluated the current use of GEPs in these patients in the Netherlands. PATIENTS AND METHODS: Primary breast cancer patients treated between January 1, 2011 and December 31, 2014 and eligible for GEP use according to the Dutch national breast cancer guideline were identified in the Netherlands Cancer Registry: ER+ patients <70 years with grade 1 tumors >2 cm or grade 2 tumors 1-2 cm without overt lymph node metastases (pN0-Nmi)...
2016: Public Health Genomics
Corina Bräm, Thomas Szucs
Genetic testing has far-reaching consequences, not only in terms of immediate patient management and the wider implications for the patient and their families, but also with respect to disclosure to insurance companies. The focus of this review is the controversial but important topic of the use of genetic data in private medical insurance. We discuss the current legal regulation of genetic data in the context of Swiss insurance, what type(s) of information is relevant to insurance companies, and why 'genetic exceptionalism' (the notion that genetic data has special status) persists...
2016: Public Health Genomics
Leah R Abrams, Laura M Koehly, Gillian W Hooker, Ryan S Paquin, Joseph N Capella, Colleen M McBride
PURPOSE: To examine public preparedness to evaluate and respond to Angelina Jolie's well-publicized decision to have a prophylactic mastectomy. METHODS: A consumer panel (n = 1,008) completed an online survey in November 2013, reporting exposure to Jolie's story, confidence applying genomic knowledge to evaluate her decision, and ability to interpret provided genetic risk information (genetic literacy skills). Linear and logistic regressions tested mediating/moderating models of these factors in association with opinions regarding mastectomies...
2016: Public Health Genomics
Samuel G Smith, Lucy Side, Susanne F Meisel, Rob Horne, Jack Cuzick, Jane Wardle
AIMS: The use of tamoxifen and raloxifene as preventive therapy for women at increased risk of breast cancer was approved by the National Institute for Health and Care Excellence (NICE) in 2013. We undertook a qualitative investigation to investigate the factors affecting the implementation of preventive therapy within the UK. METHODS: We recruited general practitioners (GPs) (n = 10) and clinicians working in family history or clinical genetics settings (FHCG clinicians) (n = 15) to participate in semi-structured interviews...
2016: Public Health Genomics
Deborah Goodman, Catherine O Johnson, Lari Wenzel, Deborah Bowen, Celeste Condit, Karen L Edwards
BACKGROUND: With the arrival of large-scale population-based genomic research studies, such as the Precision Medicine Initiative (PMI), the question of how to best consent participants is significant, and in an era of patient-centered research, few studies have evaluated participants' preferences about re-consent and broad consent. Using quantitative methods, this study evaluates participants' views regarding the acceptability of re-consent and broad consent in subjects from the Participant Issues Project...
2016: Public Health Genomics
Gabriel Shaibi, Davinder Singh, Eleanna De Filippis, Valentina Hernandez, Bill Rosenfeld, Essen Otu, Gregorio Montes de Oca, Sharon Levey, Carmen Radecki Breitkopf, Richard Sharp, Janet Olson, James Cerhan, Stephen Thibodeau, Erin Winkler, Lawrence Mandarino
BACKGROUND/AIMS: The Sangre Por Salud (Blood for Health; SPS) Biobank was created for the purpose of expanding precision medicine research to include underrepresented Latino patients. It is the result of a unique collaboration between Mayo Clinic and Mountain Park Health Center, a federally qualified community health center in Phoenix, Arizona. This report describes the rationale, development, implementation, and characteristics of the SPS Biobank. METHODS: Latino adults (ages 18-85 years) who were active patients within Mountain Park Health Center's internal medicine practice in Phoenix, Ariz...
2016: Public Health Genomics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"