How slow can it go? Why rare disease diagnosis is still far from expedited

In Advocacy, Clinical Development, Market Access, Regulation & Government by André SingerLeave a Comment

It is pretty dramatic to see that even after 30 years of the Orphan Drug Act in the US, diagnosis – and more important, early diagnosis – is one of the areas that has developed the least in the rare disease sphere.  While orphan drug development and rare disease research overall have started to evolve exponentially, it is estimated that about 20% of rare disease patients took 10 years to get an accurate diagnostic, according to an informal pool conducted by NORD. A significant number of patients had waited even more than that, 40 years for some. The logic here is that it matters little if new, life-altering, therapies are being released every year by the pharmaceutical industry, if the patients who would benefit from these can’t get a precise diagnosis. Is the rare disease community then giving emphasis to this diagnosis challenge? The answer is yes! Not only the patient groups, but government, academia and industry are working closely together to develop technologies and approaches that once successful can quickly diagnose a patient, from birth. The main and most promising initiative are the ones related to newborn screening and genome sequencing, which have quickly developed since the successful Human Genome Project, led by NIH’s Director Francis Collins. Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically. The screening programs are usually run by national, provincial or regional bodies with the target of screening all newborns under their jurisdiction, and the number of diseases being screened has risen considerably in the past years by the existing programs. This is the case of the successful approach by the Canadian province of Ontario, and what are now the guidelines from the European Union to its Member States, which are supposed to establish a framework for diagnostic tests and population screening. This is extremely important especially for countries with big populations, but still low rates of rare diseases incidence, which is most likely due to lack of mapping and accurate diagnostic. Governments must understand that taking on a wide screening program is crucial for public health, but also essential for an enhanced access to patients by the orphan drug developers. Join us at the World Orphan Drug Congress USA next April, to hear what Pranesh Chakraborty, Director of Newborn Screening Ontario; Jimmy Lin, President of Rare Genomics Institute; and Eric Green from the NIH have to say about the impact of current genomic sequencing and screening initiatives in accelerating and optimizing early diagnosis in the rare disease space.

It is pretty dramatic to see that even after 30 years of the Orphan Drug Act in the US, diagnosis – and more important, early diagnosis – is one of the areas that has developed the least in the rare disease sphere.

While orphan drug development and rare disease research overall have started to evolve exponentially, it is estimated that about 20% of rare disease patients took 10 years to get an accurate diagnostic, according to an informal pool conducted by NORD. A significant number of patients had waited even more than that, 40 years for some. The logic here is that it matters little if new, life-altering, therapies are being released every year by the pharmaceutical industry, if the patients who would benefit from these can’t get a precise diagnosis.

Is the rare disease community then giving emphasis to this diagnosis challenge? The answer is yes!

Not only the patient groups, but government, academia and industry are working closely together to develop technologies and approaches that once successful can quickly diagnose a patient, from birth. The main and most promising initiative are the ones related to newborn screening and genome sequencing, which have quickly developed since the successful Human Genome Project, led by NIH’s Director Francis Collins. Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically.

The screening programs are usually run by national, provincial or regional bodies with the target of screening all newborns under their jurisdiction, and the number of diseases being screened has risen considerably in the past years by the existing programs. This is the case of the successful approach by the Canadian province of Ontario, and what are now the guidelines from the European Union to its Member States, which are supposed to establish a framework for diagnostic tests and population screening.

This is extremely important especially for countries with big populations, but still low rates of rare diseases incidence, which is most likely due to lack of mapping and accurate diagnostic. Governments must understand that taking on a wide screening program is crucial for public health, but also essential for an enhanced access to patients by the orphan drug developers.

Join us at the World Orphan Drug Congress USA next April, to hear what Pranesh Chakraborty, Director of Newborn Screening Ontario; Jimmy Lin, President of Rare Genomics Institute; and Eric Green from the NIH have to say about the impact of current genomic sequencing and screening initiatives in accelerating and optimizing early diagnosis in the rare disease space.

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