Genetic abnormalities cause or worsen a large proportion of birth defects. Better healthcare - often simple, affordable interventions - could prevent or ameliorate around 70% of birth defects, which include disorders such as cleft palate, club foot and spina bifida.
In 2010 the World Health Assembly called on its member states to take action on birth defects - whilst recognising that many countries simply do not have access to the knowledge and tools to achieve real change.
The PHG Foundation's response was to develop a pioneering free Health Needs Assessment Toolkit for Congenital Disorders, a unique tool to help health professionals and planners in low and middle income countries around the world plan and develop new services for birth defects.
Three years in the making, during which time it was piloted in Latin America, the toolkit was launched in 2012 and is already making an impact, having been instrumental in changing government health policy on newborn screening in Uruguay, and is a significant feature in health initiatives across Latin America, India and in Europe.
The toolkit is built on the health needs assessment approach which is common currency in UK public health, but not routinely used in the developing world. The toolkit guides users through a systematic process to:
As a global leader in public health and genomics the PHG Foundation was able to muster international experts to help develop the toolkit and get it tested in Latin America and India. Collaboration with colleagues at University College London and the London School of Hygiene and Tropical Medicine enabled us to include up-to-date epidemiological data on congenital disorders and create a functional online resource that guides users through the process of collecting evidence of health needs and planning and implementing strategies for prevention, treatment and care that are suited to their local circumstances.
The toolkit was formally handed over to a consortium of health partners in Brazil in April 2014, allowing them to continue this work at a national centre of excellence in genetics and congenital disorders provided by the Universidade Federal do Rio Grande do Sul, its associated Hospital Clinicas Porto Alegre and the Brazilian National Institute for Medical and Population Genetics (INaGEMP).
Our Brazilian colleagues have been passionate champions for this project from the start and have demonstrated exceptional leadership in fostering dissemination of the toolkit across Latin America and further afield. Against the backdrop of their government's support through the Brazil Without Borders initiative, they are committed to tackling the burden of congenital disorders through international collaboration and will continue to promote and develop the toolkit and update the global health data it contains. The PHG Foundation will continue to be involved in an advisory capacity.
Birth defects (also called congenital disorders) refer to any physical abnormality present from birth, though in many cases they are not recognised until much later.
These conditions affect some aspect of the body's structure or function, and may therefore have profound impacts on health and development of the child. Birth defects vary widely, but the majority - such as Down' s syndrome, sickle cell anaemia, congenital heart disease and thalassaemia - have genetic causes. They can also arise from environmental factors e.g. poor maternal nutrition, infections, or exposure to alcohol, drugs and chemicals during pregnancy. Some birth defects are due to a combination of genetic and environmental factors.