​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.

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]

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.  ​ 

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. ​

Antenatal results & choices

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

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. 

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.​​ 

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. 

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.​

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.

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