Reducing infant mortality through enhanced genetic services

Mark Kroese

1 October 2014

Reducing infant mortality through enhanced genetic services

Infant mortality in Birmingham has historically been amongst the highest in England and Wales. In 2001, it was almost double the England and Wales average. The Heart of Birmingham PCT in 2008, funded the Enhanced Genetics Services Project (EGSP) which aimed to provide enhanced clinical genetics services to the populations in Birmingham at greatest risk of infant mortality. The PHG Foundation was asked to participate and was the lead for the evaluation of the Project.

The EGSP identified that in the Birmingham population there are a number of minority ethnic groups which experience higher infant mortality rates, thought to be linked to high level of consanguineous marriages and the associated risk of autosomal recessive conditions.  The Pakistani community in particular had been identified as a high risk population and was a main focus for the pilot services.

The EGSP model

EGSP consisted of a number of strands, including

(1)    Piloting haemoglobinopathy screening in two Birmingham GP Practices,

(2)    Providing an enhanced  genetic counselling service to the ‘at risk’ communities including cascade testing for affected families

(3)    An educational programme aimed at health professionals and the high risk communities. In addition, the West Midland Regional Genetics Laboratory developed new genetic tests to aid identification of at risk family members.

Strand 1, the general practice strand, identified patients affected by haemoglobinopathies as well as a significant number of carriers. Feedback from this strand showed that patients and practice staff were receptive to the project. However, there was some confusion amongst patients on what being a carrier of a genetic disorder means for themselves and their families. This indicated that primary care would require considerable development and specialist support in order to provide an education service to people whose genetic test results were positive.

The clinical strand (strand 2) extended the services offered by the West Midlands Clinical Genetics Services, and included the systematic identification of families appropriate for EGSP genetic services. This strand began by reviewing all existing families from Birmingham known to the department, followed secondly by case finding. One hundred and eighty-eight families were reviewed and potentially over 700 family members were identified as ‘at risk’, and able to benefit from genetic counselling and testing. EGSP-developed genetic tests and funded genetic testing service provided 534 genetic tests for NHS patients, resulting in molecular genetic diagnoses for 116 patients and confirmation of carrier status for 109 individuals.

The educational strand (strand 3) was notably successful both in educating a range of health professionals and in educational activities in the community. Health visitors were particularly engaged with these activities. EGSP’s educational work was also well received in community settings- a significant achievement considering the sensitive nature of providing education linked to the potential health consequences of consanguinity.   

The EGSP evaluation report includes recommendations, identified through the project, to support services for at risk populations and to reduce infant mortality rates. These and the additional details about the services developed by the project may be of interest to communities which are experiencing high levels of infant mortality and congenital anomalies.

A key to achieving the desired long-term health outcomes will be the ability of health and community services in Birmingham to build on the achievements of the project and to maintain these in a sustained programme of activity addressing the causes of infant mortality.