Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?

Area of Science:

• Haematology
• Medical Genetics
• Public Health

Background:

• Hereditary blood disorders, particularly thalassaemias, pose a significant public health challenge.
• Prevention strategies include genetic counselling and curative treatments like HSCT and gene therapy.
• Genetic counselling informs carriers about inheritance risks, enabling informed reproductive choices.

Purpose of the Study:

• To review current practices in genetic counselling for haemoglobinopathy prevention programmes.
• To highlight the need for skilled genetic counsellors in managing hereditary blood disorders.
• To advocate for the integration of genetic counselling into routine haematology services.

Main Methods:

• Review of existing programmes and published literature on genetic counselling in haemoglobinopathy prevention.
• Analysis of current counselling practices in screening and prevention initiatives.

Main Results:

• Counselling in haemoglobinopathy prevention programmes is typically provided by clinicians, nurses, or lab scientists.
• There is a recognized shortage of trained genetic counselling professionals in haematology settings.
• Current practices often lack the integration of multidisciplinary expertise.

Conclusions:

• The Thalassaemia International Federation is developing specialized training for genetic counselling in haematology.
• A multidisciplinary approach to genetic counselling is recommended due to the complexity of hereditary blood disorders.
• Integrating genetic counselling into haematology services is essential for effective disease control and prevention.