Guest Lectures

Dr.P K Rajiv head of newborn division was asked to give the keynote address on this epic conference. A synopsis of his lecture incorporated the following ponits.

Screening newborn babies for inherited diseases has been an evolutionary journey since the 1960s and various centres in the west prioritised the screening programmes based on the prevalence of the heriditory diseases in the population. The basic principles of newborn screening involve a heritable disease which has disease modulation and effective treatment ,if diagnosed early. The screened disease must have a prevalence of at least 1/25000. The screening test must be highly sensitive and specific. The prototype disease was Phenyl Ketonuria, a disorder of amino acid metabolism which has potential for brain damage, but a good neurological outcome if diagnosed immediately after birth. The next disorder of great clinical impactwas thyroid disease with an incidence of 1/3500 in the newborn leading to mental subnormality if diagnosed late.

The incidence of all inborn errors of metabolism may be around 1/15000 to 1/25000., but collectively they may reach an alarming incidence of 1/3000 depending on the topographical location. In the UAE, aminoacid disorders, fatty acid oxidation defects, thyroid disease, G6PD defeciency of the RBC, sickle cell anemia, congenital adrenal hyperplasia, have priority in screening.

Dr.Rajiv raised concerns about how a national programme in screening could be viable given the enormous cost involved to the Governments. Abu Dhabi has made screening a national programme, so has Saudi Arabia. The UK experience in the 1980s may have to be taken as a yardstick. At that point UK did only screening for diseases "that could be fixed", and did not include the comprehensive list as done in USA which included screening for disorders where the outcome was not reasonably modified. He suggested that a medium tight rope screening course would be of order, based on the local prevalence of disease. He suggested that since maternity insurance is becoming total, screening could be part of this activity. The tremendous volumes screened would allow the screening to be costed at a lower cost partly born by the insurance company and partly by the government. He was happy to note that all Government hospitals were screening all babies. He concluded with a rhetoric "Any deviation of disease patterns esprcially one simulating sepsis should make one suspect inborn error of metabolism. It is not so uncommon".

The conference was well attended by 130 delegates from UAE and saudi arabia.