Literature DB >> 21283011

A grand challenge: providing benefits of clinical genetics to those in need.

Alice K Hawkins1, Michael R Hayden.   

Abstract

Genetic research, techniques, and knowledge have rapidly expanded in the last two decades with the completion of the Human Genome Project and other major advances in discovery research and diagnostic technologies. Although these developments have obvious potential, they also raise significant challenges related to programs for the actual delivery of useful genetic testing and services. This challenge is particularly acute in rural and remote areas, where lack of access to genetic services is pervasive resulting in significant inequities in access and availability of services. Huntington disease, the classic example of an adult-onset hereditary disorder, is used to illustrate this concern and highlight the imperative of exploring novel mechanisms to improve access to effective genetic services. The components of an effective and practical solution strategy are outlined, including the development of innovative delivery systems such as telemedicine, web-based education tools, and cost-reduction mechanisms. A proactive approach is essential to ensure the potential benefits, and availability of clinical genetics is realized by those in need rather than just those in reach.

Entities:  

Mesh:

Year:  2011        PMID: 21283011     DOI: 10.1097/GIM.0b013e31820c056e

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  24 in total

Review 1.  Human Germline Genome Editing.

Authors:  Kelly E Ormond; Douglas P Mortlock; Derek T Scholes; Yvonne Bombard; Lawrence C Brody; W Andrew Faucett; Nanibaa' A Garrison; Laura Hercher; Rosario Isasi; Anna Middleton; Kiran Musunuru; Daniel Shriner; Alice Virani; Caroline E Young
Journal:  Am J Hum Genet       Date:  2017-08-03       Impact factor: 11.025

2.  One community's effort to control genetic disease.

Authors:  Kevin A Strauss; Erik G Puffenberger; D Holmes Morton
Journal:  Am J Public Health       Date:  2012-05-17       Impact factor: 9.308

3.  Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation.

Authors:  Andrea L Shugar; Nada Quercia; Christopher Trevors; Marina M Rabideau; Sohnee Ahmed
Journal:  J Genet Couns       Date:  2016-06-07       Impact factor: 2.537

4.  Using Public-Private Partnerships to Mitigate Disparities in Access to Genetic Services: Lessons from Wisconsin.

Authors:  Laura Senier; Matthew Kearney; Jason Orne
Journal:  Adv Med Sociol       Date:  2015

5.  "Where Does it Come from?" Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya.

Authors:  Amal Gedleh; Siwon Lee; Jessica A Hill; Yvonne Umukunda; Seemi Qaiser; Joy Kabiru; Kahaki Kimani; Lucy Njambi; Grace Kitonyi; Helen Dimaras
Journal:  J Genet Couns       Date:  2017-11-23       Impact factor: 2.537

6.  Telemedicine in Neurological Disorders: Opportunities and Challenges.

Authors:  Martina Chirra; Luca Marsili; Linsdey Wattley; Leonard L Sokol; Elizabeth Keeling; Simona Maule; Gabriele Sobrero; Carlo Alberto Artusi; Alberto Romagnolo; Maurizio Zibetti; Leonardo Lopiano; Alberto J Espay; Ahmed Z Obeidat; Aristide Merola
Journal:  Telemed J E Health       Date:  2018-08-23       Impact factor: 3.536

7.  SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.

Authors:  Tania Cruz-Mariño; Yaimeé Vázquez-Mojena; Luis Velázquez-Pérez; Yanetza González-Zaldívar; Raúl Aguilera-Rodríguez; Miguel Velázquez-Santos; Annelié Estupiñán-Rodríguez; José Miguel Laffita-Mesa; Luis E Almaguer-Mederos; Milena Paneque
Journal:  J Community Genet       Date:  2015-04-19

8.  Experiences of Genetic Counselors Practicing in Rural Areas.

Authors:  Margaret Emmet; Quinn Stein; Erin Thorpe; MaryAnn Campion
Journal:  J Genet Couns       Date:  2017-08-22       Impact factor: 2.537

9.  When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada.

Authors:  Alice K Hawkins; Susan Creighton; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2012-07-11       Impact factor: 4.246

10.  Report from the National Society of Genetic Counselors service delivery model task force: a proposal to define models, components, and modes of referral.

Authors:  Stephanie A Cohen; Shanna L Gustafson; Monica L Marvin; Bronson D Riley; Wendy R Uhlmann; S Bonnie Liebers; Julie A Rousseau
Journal:  J Genet Couns       Date:  2012-05-08       Impact factor: 2.537

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