Cystic fibrosis and genome project


Sir, – The Taoiseach recently noted the high prevalence of cystic fibrosis in Ireland, causing “vast numbers of families” to be affected (News, April 13th).

Laudably, Leo Varadkar has set the goal of having Ireland become a world leader in the treatment of this disorder.

Cystic fibrosis is a genetic disease. The Irish population has one of the highest prevalences of cystic fibrosis in the world, because one person in 19 is estimated to carry a mutated copy of the gene underlying the disease.

But Ireland needs to follow the example of other European countries such as England, Estonia, Finland and Denmark, where public national genome projects are being undertaken.

By characterising the DNA sequence of as many as hundreds of thousands of people in each country, not only can the number of cystic fibrosis carriers be accurately measured, they can identify and study other disease and treatment-related genes, that can guide more effective care.

Were the same approach to be performed for the island of Ireland, we would gain similar valuable insights.

The opportunity for individuals and families to understand how our genes predispose us to diseases over the course of our lifespans would be a major advance for healthcare on both sides of the Border.

Drug complications could be avoided, lifestyles could be modified, tailored therapies could be applied, family planning could become more informed, and governments could predict with more accuracy how much money they would have to spend on valuable but costly treatments like Orkambi for cystic fibrosis or Respreeza for alpha-1 antitrypsin deficiency, another genetic condition.

Our European neighbours recognise that a national genome project is not only valuable in understanding the genomic health of their citizens, they are also aware that such national resources stimulate job creation, inward investment and innovation.

Ireland should not lag behind with such opportunities at stake.

Last Tuesday, 16 EU ministers for health signed a declaration in Brussels to pursue a public project to sequence a million European genomes.

Regrettably, Ireland was not one of the signatories.

Now is the time to embark upon a public project to sequence individuals from across the island of Ireland. – Yours, etc,


Trinity College Dublin;



Royal College of Surgeons

of Ireland;


DMed, PhD,

Albert Einstein College

of Medicine,

New York, US;


Icahn School of Medicine

at Mount Sinai,

New York, US;


Queen’s University