Reports by Human Genetics
The following publications have been drafted by WHO Human genetics programme. All publications are in English except where specified otherwise. All reports can be downloaded directly from the website.
To order a hard copy of the following publications, please:
Community Genetics services, Report of a WHO Consultation on community genetics in low-and middle -income countries, Geneva, Switzerland, 13-14- September 2010
The objective of this Consultation was to develop an evidence-based report on community genetics services to provide guidance to low- and middle-income countries (LMIC) in accordance with the 2008–2013 Action Plan for the Global Strategy for the Prevention and Control of Noncommunicable Diseases (NCDs).
Management of Haemoglobin Disorders, Report of Joint WHO/TIF Meeting, Nicosia, Cyprus, 16-18 November 2007
On 16 to 18 November 2007, WHO and the Thalassaemia International Federation (TIF) held a joint meeting in Nicosia, Cyprus, entitled: "The Management of Haemoglobin Disorders". The meeting was convened at the request of WHO’s Human Genetics Programme (HGN) following the approval, on May 2006, of WHO resolutions on sickle cell anaemia (WHA59.20) and thalassaemia and other haemoglobinopathies (EB118.R1).
Meeting participants included 28 experts from low- and middle-income and high-income countries, and 6 staff members from TIF headquarters.
The overall consensus of the group was to promote the WHO resolutions on sickle cell anaemia and thalassaemia, through efforts to fulfill the objectives of this meeting.
Management of birth defects and haemoglobin disorders: report of a joint WHO-March of Dimes Meeting, Geneva, Switzerland, 17 - 19 May 2006
On 17 to 19 May 2006, WHO and the March of Dimes Birth Defects Foundation held a joint meeting in Geneva entitled : "The Management of Birth Defects and Haemoglobin Disorders". This document is the report from this meeting detailing the resolutions achieved on the following five goals: 1) ratify data on the global toll of birth defects; 2) agreement upon a definition of terms; 3) develop a five-year collaborative plan for strengthening care and prevention of birth defects in low- and middle-income countries; 4) develop a five-year plan for WHO for strengthening care and prevention of haemoglobin disorders in low- and middle-income countries; and 5) determine how potential stakeholders could contribute to these efforts.
Addressing the global challenges of craniofacial anomalies: Report of a WHO meeting on International Collaborative Research on Craniofacial Anomalies (2004)
Craniofacial anomalies affect a significant proportion of society. The cost of these anomalies in terms of morbidity, health care, emotional disturbance and social and workplace exclusion are considerable for affected individuals, their families and society. In 2000, the National Institute for Dental and Craniofacial Research, US and the WHO programme for human genetics initiated a project to form an international network for planning, designing protocols and setting up a database for international collaborative studies on craniofacial anomalies. This document is the report from the final meeting of the project, which was held in December 2004 to review progress since the project initiation and to bring all interested parties together to discuss further steps to optimize the surveillance, treatment and research strategies and infrastructure for craniofacial anomalies in various parts of the world.
The molecular genetic epidemiology of cystic fibrosis (2004)
This document is one of a series related to Cystic Fibrosis (CF) that have been published by WHO since 1983. It attempts to set out what is known about the worldwide epidemiology of CF and related disorders. The report is intended to provide a point of reference for national and international health organizations, and to help them in planning diagnostic, advisory and therapeutic services for affected patients and their families.
Community genetic services in Latin America and regional networks on medical genetics (2004)
The WHO Human Genetics Programme organized a consultation in Latin America to assess the status of genetic services in the region and to devise mechanisms of cooperation to further their development, including issues of genetic research, training and education.
Global registry and database on craniofacial anomalies (2003)
With financial support from the United States National Institute of Dental and Craniofacial Research, the Human Genetics Programme of the World Health Organization launched a five-year project in 2000 to advance international research on craniofacial anomalies (CFA). The first meeting, held in November 2000, focused on four selected areas of research (treatment of CFA, gene/environment interaction (GEI), genetics, and prevention); the second, held in May 2001, considered the prevention of CFA 1, and the third, held in December 2001, focused on the establishment of a global registry of CFA and is summarized in this report.
World Atlas of Birth Defects (2003)
This Atlas contains information on the birth prevalence of birth defects from around the world. Historically, such information has been difficult to find and collate, leaving a considerable gap in the international assessment of birth defect prevalence. This Atlas, now in its second edition, aims at filling this gap.
Cover page and Credits
Why an Atlas? And for Whom?
Guide to the Reader
Birth defects list
List and Desciptions of Registries and Time Periods
Transposition of great vessels
Tetralogy of Fallot
Hypoplastic left heart syndrome
Coarctation of aorta
Cleft palate without cleft lip
Cleft lip with or without cleft palate
Oesophageal atresia/ stenosis with or without fistula
Small intestine atresia/ stenosis
Anorectal atresia/ stenosis
Limb reduction defects
Human Genetic Technologies: Implications for Preventive Health Care (2002)
This briefing aims to further the debate regarding genetic determinism, preventive healthcare and health inequalities by identifying the relevant key trends and areas where public health policy may need to respond. Cancer and heart disease are used as case studies of relevant diseases.Available in print only
Report of Joint WHO/WFH Meeting on the Control of Haemophilia: Delivery of Treatment for Haemophilia (2002)
The delivery of treatment of haemophilia report, is one of a series of reports on the control of haemophilia published by the World Health Organization and the World Federation of Haemophilia (WFH) since 1990. It provides an overview of the current status of haemophilia treatment delivery with recommendations for the future.
Global Strategies to Reduce the Health Care Burden of Craniofacial Anomalies (2001)
Craniofacial anomalies (CFA) are a highly diverse group of complex congenital anomalies. Collectively they affect a significant portion of the global society. This report examines current research addressing the genetics, gene/environment interaction, treatment and prevention of craniofacial anomalies and provides recommendations for possible future research in these areas.
Report of Joint WHO/CF Organizations Meeting on Classification of CFTDR Disorders (2000)
This report by WHO ICF(M)A, ECFTN and European Cystic Fibrosis Society (ECFS) was published in 2002 and contains a revised classification of Cystic Fibrosis taking into account the current knowledge and the diagnostic problems associated with this disease.
Primary Health Care Approaches for Prevention and Control of Congenital and Genetic Disorders (2000)
In December 1999, a group of WHO advisors met in Cairo at the WHO meeting on Public Approaches for the Control of Genetically Determined Disorders and Birth Defects in Primary Health Care. It was concluded that the potential burden of congenital disorders is as great in low- and middle- income countries as it is in high income countries. A global initiative, combining prevention, services for diagnosis and best as possible patient care, was recommended. This report examines the proposed approach.
Familial Hypercholesterolaemia: Report of a second WHO Consultation (1999)
Report of a WHO/WAO Meeting on Prevention and Care of Genetic Diseases and Birth Defects in Developing Countries (1999)
Report of Joint WHO/Hemochromatosis Foundation/Canadian, French and UK Associations Meeting on the Prevention and Control of Haemochromatosis: Improved Diagnosis (1998)
Also available in French
Report of a WHO Collaborating Centre for Community Genetics and Education on Medical Genetic Services in Latin America (1998)
Report of a Joint WHO/WFH Meeting on Control of Haemophilia : Haemophilia Care in Developing Countries (1998)
Report on Genetic Strategy for Preventing Early Deaths : Familial Hypercholesterolemia (1998)
Manual for Cystic Fibrosis Patients and Their Parents (1996)
Also available in French and Spanish
Control of Hereditary Disease: Report of a WHO Scientific Group (1996)
Guidelines for the Development of a National Programme for Haemophilia (1996)
Report of a WHO Meeting on Alpha1-Anti-trypsin Deficiency (1996)
Haemophilia: Facts for Health Care Professionals (1996)
Report of a Joint WHO/ISTH (International Society of thrombosis and Hemostasis) Meeting on Inherited Thrombophilia (1995)
Non-invasive Screening for Prenatal Genetic Diagnosis Report of an International Working Group with WHO co-sponsorship (1995)
Report of a Joint WHO/ICF(M)A Meeting on Implementation of Cystic Fibrosis Services in Developing Countries (1995)
Report of a Joint WHO/WFH Meeting on the Control of Haemophilia: Modern Treatment of Haemophilia (1994)
Guidelines for the Control of Haemoglobin Disorders (1994)
Community approaches to the control of hereditary diseases: Report of a WHO Advisory group (1985)
DISCLAIMER: This publication is now made available to the general public and includes editorial modifications to the initial document issued in 1985.