ESHG Genetic Educational Materials & Sources
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​This page provides links to sources of information that are selected for usefulness to non-genetics hospital specialists and to primary care health practitioners. The information includes educational modules (e.g. in Gen-Equip), comprehensive A-Z directories of summarised information for numerous genetic conditions, including local contact details (e.g. in Contact, Orphanet and, in more detail, in GeneReviews) as well as educational leaflets that can be downloaded and printed. In addition, links to smartphone apps are provided to assist with cancer genetics referral decisions.
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Genomics in Brief

Genomics in Brief course for non-genetics healthcare professionals (a new free, concise, introductory course, undergoing further development). Comments please to: [email protected]
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GeneReviews

This database contains a large number of reasonably comprehensive, disease-orientated, reviews. They are generally expert-authored and easy to read, containing clinical features, differential diagnoses and molecular details.  ​ 
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Unique

​A support group especially for chromosome disorders but also for single gene disorders.  Numerous family-friendly, medically-verified, disorder-specific information guides, in several languages. ​
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Antenatal results & choices

This organisation offers non-directive information & support to parents, before, during & after antenatal screening.
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Gen-Equip

This European project aims to enable health professionals working in primary care to update their knowledge and skills in genetics.  It includes online learning modules, short webinars, real patient stories and tools to assist in daily practice. Provided in MULTIPLE LANGUAGES. 
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Contact

A UK charity supporting families, providing an A-Z directory of helpful fairly brief summaries of many genetic conditions and full contact details of support groups.​​ 
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Orphanet

A consortium of 40 countries, providing summarised info on rare diseases & patient organisations (with contact details in many countries, especially in Europe).​ Provided in MULTIPLE LANGUAGES. 
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Genomics glossary apps

Free glossary app, containing brief illustrated explanations of >40 frequently-used terms e.g. "FASTQ, BAM, VCF, gVCF, Phred, BED, BWA & GATK".  Also an accompanying self-assessment quiz app. Both apps function offline & are used as reminders by students & professionals, internationally.​
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Cancer genetics referrals

Information, web-interface & free smartphone apps from Guy's & St Thomas' Hospital, UK, designed to assist primary care doctors (GPs) in deciding which individuals should be referred to the hospital Clinical Genetics service. Other hospitals may have different criteria, of course.
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Clinical genetics leaflets

Source of many leaflets on clinical genetic conditions and genetic testing, from ScotGEN and the South-East Scotland Genetic Service. Currently being updated.


LOCALIZED/NATIONAL INITIATIVES

Please note that the Gen-Equip and Orphanet websites (above) are provided in multiple languages. 

Other resources:

England

NHS England: Genomics Education Programme (includes GeNotes: in-clinic guidance articles aligned to England's genomic test directory criteria)

Australia
Melbourne Genomics

Nederland
www.erfelijkheid.nl
Huisarts en Genetica


India
GeneTOP online course (Indian Academy of Medical Genetics 

Ireland
Rare diseases: a resource for primary care professionals
Fundamentals of Genetic Testing. Educational webinar series


USA
The Jackson Laboratory: Education and Learning 
American Medical Association podcasts on genetics topics


Canada
Genetics Education Canada - Knowledge Organisation


MASSIVE OPEN ONLINE COURSES (MOOCs)

Genomic Medicine: Harnessing the Power of the Human Genome
Understanding Genetic Disorders: How DNA Influences Health
Clinical Bioinformatics: Unlocking Genomics in Healthcare
Cancer in the 21st Century: the Genomic Revolution
Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing
The Genomics Era: the Future of Genetics in Medicine
Genomic Medicine: Transforming Patient Care in Diabetes

Xpeer courses on paediatric genetics and neurogenetics
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​Website © Edward and Adam Tobias, 2025. Please feel free to get in touch, using the contact form, e.g. with any comments or suggestions for amendments, such as adding up-to-date, high-quality, free educational sources. The accuracy, precision or comprehensiveness of the information and views provided on this website, or on the pages to which it directly or indirectly links, cannot be guaranteed.  The information available on this website, & on the pages to which it links, is not intended to replace professional health care. It is non-contractual, & can be changed at any time. 
Sitio web © Edward y Adam Tobias (Reino Unido), 2021. Traducción realizada por Anna Esteve Garcia (Barcelona, España) e Irene Esteban (Glasgow, Reino Unido). No dude en ponerse en contacto mediante el formulario de contacto; por ejemplo, con cualquier comentario o sugerencia de mejora, como la propuesta de otras herramientas educativas gratuitas de alta calidad y actualizadas. La exactitud, precisión o exhaustividad de la información proporcionada en este sitio web, o en las páginas a las que enlaza directa o indirectamente no está garantizada. La información disponible en este sitio web y en las páginas a las que se vincula no pretende reemplazar la atención médica profesional. No es contractual y puede cambiar en cualquier momento.​
Site © Edward e Adam Tobias (Reino Unido), 2022. Tradução de Raquel Gouveia Silva (Lisboa, Portugal) e Juliana Miranda Cerqueira (Porto, Portugal & Tampere, Finland).  Sinta-se à vontade para entrar em contato através do formulário de contato; por exemplo, com quaisquer comentários ou sugestões de melhoria, bem como através da proposta de outras ferramentas educacionais gratuitas de alta qualidade e atualizadas. A exatidão, precisão ou abrangência das informações e visualizações fornecidas neste site, ou nas páginas às quais ele se vincula direta ou indiretamente, não pode ser garantida. As informações disponíveis neste site e nas páginas às quais ele se associa não se destinam a substituir os cuidados de saúde de profissionais. Não é contratual e pode ser alterado a qualquer momento.
​Site web  © Edward et Adam Tobias, 2021. Traduction réalisée par Jean-Marie Ravel, Jeanne Jury, Léa Veyrune, Evan Gouy & Mathys Weber, 2023. N’hésitez pas à nous contacter via le formulaire de contact, et notamment pour nous faire part de vos commentaires ou de vos suggestions de modifications, comme l'ajout de ressources pédagogiques à jour, gratuites et de qualité. L'exactitude, la précision ou l'exhaustivité des informations et des commentaires fournis sur ce site web, ou sur les pages vers lesquelles il renvoie directement ou indirectement, ne peuvent être garanties. Ces informations et commentaires sont non contractuels, peuvent être modifiés à tout moment et ne sont pas destinés à remplacer des soins dispensés par des professionnels de santé. 

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  • Home
  • For genetics professionals
  • For universities & students
  • For patients & families
  • Non-genetics specialists & primary care
  • For secondary schools
  • For primary schools
  • Ethical, legal & social implications
  • Inicio
  • Para profesionales especialistas en genética
  • Para estudiantes de universidad
  • Para pacientes y familias
  • Profesionales no especialistas en genética y profesionales de atención primaria
  • Educación secundaria
  • Educación primaria
  • Implicaciones éticas, legales y sociales
  • Início
  • Para profissionais geneticistas
  • Para universidades e estudantes
  • Para pacientes e famílias
  • Especialistas não-geneticistas e cuidados primários
  • Para escolas secundárias
  • Para escolas primárias
  • Implicações éticas, legais e sociais
  • Accueil
  • Professionnels de la génétique
  • Universitaires & Etudiants
  • Patients et familles
  • Médecins spécialistes non généticiens
  • Enseignement secondaire
  • Écoles primaires
  • Implications éthiques, juridiques et sociales