DIAGNOSIS AND SCREENING IN
RARE DISEASES IN ROMANIA
Medical Genetics, University of Medicine and Pharmacy
“Victor Babes”, Timisoara,
Medical genetics, Oradea
A disease is
considerate rare if
it affects less than
5/10000 of people.
A rare disease (an orphan disease) has such a low
prevalence in a population that a doctor in a busy
general practice would not expect to see more than one
case a year.
According to the European Commission, "rare diseases,
including those of genetic origin, are life-threatening or
chronically debilitating diseases which are of such low
prevalence that special combined efforts are needed to
Most of rare diseases are genetic disorders,
resulting from inherited or newly arising mutations
in genes involved in the development and function
of different organ systems.
In many genetic and metabolic disorders, symptoms don’t
begin until days or weeks after an infant is born.
By the time symptoms appear, damage may already have
been done to the nervous system, kidneys, vision,
hearing, and other body systems. That's why early
detection of these serious disorders in all infants is very
Diagnosis and treatment of these disorders can reduce
the risk of disease, disability, and even death.
The idea of testing all newborn babies for disorders began
in the 1960s with the development of a screening test for
phenylketonuria, a metabolic disorder.
A method of collecting and transporting blood samples on
filter paper was developed that made wide scale
screening cost effective. Since then many more screening
blood tests have been developed, and now an infant can
be tested for more than 30 different genetic or metabolic
disorders. New technology using
tandem mass spectrometry can screen for many
disorders using only a few drops of the baby’s blood.
Screening for disorders is part of newborn health
care in all developed countries. Most countries
screen for phenylketonuria,
congenital hypothyroidism, and cystic fibrosis.
Many also screen for congenital adrenal
hyperplasia, galactosemia, and
sickle cell disease, as well as other disorders.
the national health programs follow the screening for
phenylketonuria and congenital hypothyroidism, but,
unfortunately, the test are not homogenous nationwide,
practically canceling the idea of screening.
This year the national health programs are looking to
improve the number of counties which are included in the
screening system to 22 (from 39), the number of new-
borne to approximately 120000 for phenylketonuria and
The diagnostic for rare disease in
general is no better
The diagnostic for the genetic disease is possible
in many Universities across the country, but the
specialized personal and technical resources are
insufficient and inefficient because of the lack of
competent reference centers which can make a
correct network approach for the rare disease,
like in many European countries.
The development of genetic investigations
techniques from conventional cytogenetic
analysis, to cytogenetic-molecular techniques
and molecular investigations of the gene
sequence and gene expression in different tissues,
made possible the diagnosis of many genetic
disorders and identified the underlying causes.