Action on access to genetic testing services demanded

Islamabad : The Pakistan Foundation Fighting Blindness (PFFB) has urged the government to facilitate access to genetic testing services for inherited retinal dystrophies that cause degeneration of the retina.

In a message released to coincide with World Retina Day, which is observed worldwide on September 29, PFFB has joined the global retinal community of patients, clinicians, scientists and allied health professionals in calling upon the national health care system to recognize the importance of genetic testing and to provide equitable access to such services for Inherited Retinal Degenerations (IRDs).

World Retina Day focuses on seeking a cure for Retinitis Pigmentosa (RP) and allied diseases. RP is the name of a group of inherited retinal dystrophies that cause degeneration of the retina, which is a thin sheet of interconnected nerve cells behind the eye, including the light sensitive cells (rods and cones). It is here that light is converted into electrical signals to the brain where ‘seeing’ takes place. In RP, the rod and cone cells degenerate; its progression rate varies but there is no cure for RP at this time.

Patients who have had access to genetic testing services have felt empowered by receiving results that allow them to better understand their condition. David Keegan, Clinical Professor of Ophthalmology and Retina at University College Dublin defines IRDs as complex genetic conditions, and believes that “through the development of genetic testing tools, we can now locate the causative gene faster and more accurately. This means that patients can understand their condition better and take appropriate action. Without access to genetic testing services and to genetic counsellors, there is a real fear that patients will miss opportunities to stabilize their vision and that is something we as clinicians feel is unacceptable. That is why we are supporting Retina International’s call for access to genetic testing services for IRDs on World Retina Day 2018.”

Christina Fasser, President of Retina International, said, “Without access to a genetic test, a person living with an IRD will not only be unable to access potential therapies or trials but they will not understand how their condition is likely to progress in their family, what considerations need to be taken regarding lifestyle choice and will not have a personal care plan. IRDs are complex conditions but they are also actionable conditions and for patients to take action, so too must those who develop health policy at a national level. In this era of innovation and possibility, decision makers must understand that access to genetic testing for IRDs is now essential.”

PFFB has appeals to members of the community to make generous donations for the sustenance of its various projects. “Your donation will help us find treatments for genetically transmitted eye disorders. Cross Cheques may be issued in favour of Pakistan Foundation Fighting Blindness, Askari Bank Ltd. A/C # 026-010000039-1, SWIFT CODE: ASCMPKKA, IBAN No: PK57ASCM0000260100000391,” the message states in a call for governments and funding agencies to support the fight against blindness by funding research into much needed treatments and cures.