A fortuitous metabolic pathway

Abstract

I have been very fortunate to be involved in clinical and metabolic genetics during a period of such rapid growth and change. My entry into the field was accidental when, duringmy pediatric training, I diagnosed the first recognized Victorian patient with MCADD. I have had the advantage of excellent teachers headed by David Danks, John Rogers, and Charles Scriver. While training, I experienced the excitement of the formation of the Murdoch Institute, revolutionary in its concept. With so few in the field, I also had the opportunity to be on many committees and became involved in the formation of the ASIEM, the introduction of metabolic nurses, the formation of the Queensland Clinical Genetics Service, the introduction of genetic counseling to Queensland and, more recently, the formation of the Queensland LifespanMetabolic Medicine Service and the blueprint for a national newborn screening program. Duringmy 32 years of involvement in the field, I have seen the emergence of new metabolic conditions including mitochondrial, carbohydrate deficient glycoprotein, and peroxisomal disorders. The rapid progression of molecular genetics and the development of tandem mass spectroscopy has revolutionized metabolic diagnoses, particularly in the field of newborn screening. I have also had the opportunity to influence government funding of therapies for lysosomal enzymes, particularly for MPS I, (II), VI, and IV, Fabry, and Pompe diseases. The future of genetics looks equally exciting as molecular diagnoses lead to new therapies. The challenge will be how to finance these therapies as they emerge, particularly those that require recurrent funding. Currently, therapies exist for only 2%of rare diseases, but some of them have lifetime costs in excess of $40million/patient. Other challenges will include funding for molecular genetic testing, balanced education of the public on the utility of genetic testing, and avoiding the deskilling of the roles of genetic clinicians and counselors.L6200018282018-01-03 <br />