Dr Brian D. Tait | The Impact of Haplotyping on Disease Inheritance and Clinical Treatment

The functional significance of these changes depends on whether the mutations are on one haplotype or both. Haplotyping is important for understanding a person’s inherited disease risk and for personalised medicine.

Dr Brian Tait, an expert in genetics and immunology from Haplomic Technologies and the University of Melbourne, recently published a review outlining the techniques available for haplotyping. He also highlights clinical areas that will benefit from accurate haplotyping.

Family studies, which involve analysing genes from relatives across different generations, are the gold standard for haplotyping.

Mathematical approaches, such as ‘linkage disequilibrium’, commonly used by many, including the US Bone Marrow Registry, are not 100% accurate but are much more affordable than family studies. However, linkage disequilibrium can fail as an indicator of genetic phase when looking at disease patients, or non-White ethnic groups, as such populations have been underrepresented in research.

DNA sequencing allows researchers to reveal the order of the molecules within a gene. A new DNA sequencing technique developed by Haplomic Technologies allows a single chromosome to be analysed. This technique can be used for definitive haplotyping, with no limitations on the size of the DNA sequence being studied.

This technique can also improve the outcome of many medical procedures, such as bone marrow transplants. For instance, patients with haplotype-matched donors have much better transplant outcomes than those matched for single alleles.

Excitingly, haplotyping can also be used to more accurately define variations in ‘immune checkpoint’ genes, which is useful in inhibiting the growth of certain tumours, such as metastatic melanomas.

Dr Tait’s work on haplotyping will undoubtedly have a significant impact on patient care and outcomes in a variety of clinical situations.