Volume 193 - Issue 7
Reducing the burden of inherited disease: the Human Variome Project
Authors: R John Massie and Martin B Delatycki
Med J Aust 2010; 193 (7): 430-431. || doi: 10.5694/j.1326-5377.2010.tb03987.x
Published online: 4 October 2010
Published online: 4 October 2010
To the Editor: The editorial on the Human Variome Project by Cotton and Macrae1 neatly lays out the reasons for government funding for gene mutation databases for inherited diseases.
Most of these diseases are rare, but collectively, they are common. The article highlights the key principles of detecting gene mutations and establishing pathogenicity in order to offer individuals (or couples) relevant health information for themselves and/or their (future) offspring. Cotton and Macrae mention a number of specific diseases, but do not mention the commonest life-shortening inherited disease affecting Australian children — cystic fibrosis (CF).
Far from being theoretical, nearly all of the principles outlined by Cotton and Macrae are already in place for CF, including clinical databases (in Australia, the Australian Cystic Fibrosis Data Registry), an international gene mutation database (at http://www.sickkids.on.ca, which is contributed to by Australian genetics laboratories) and programs to offer carrier screening to the population.
Unfortunately there is very little government funding for these initiatives, so they are not coordinated. In particular, screening for CF carriers in the population, which is of considerable clinical utility, has only small, fee-for-service programs that reach very few people.2,3 These programs are inequitable in that many people are unaware of the existence of such screening programs and, of those who are, many cannot afford the cost of testing. CF provides an excellent model for the development of a coordinated approach to inherited disease screening and, given that 800 000 Australians are carriers of CF mutations, funding CF screening should be a major government priority.
References
- Cotton RGH, Macrae FA. Reducing the burden of inherited disease: the Human Variome Project [editorial]. Med J Aust 2010; 192: 628-629.
- Massie J, Petrou V, Forbes R, et al. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 2009; 49 Suppl 5: 484-489. 0_i1095400
- Christie LM, Ingrey AJ, Turner GM, et al. Outcomes of a cystic fibrosis carrier testing clinic for couples. Med J Aust 2009; 191: 499-501. 0_i1095402