RAWALPINDI, NOV 13 /DNA/ – Families who have spent years searching for answers to unexplained illnesses are finding new hope at Al-Shifa Trust Eye Hospital, where genetic testing has helped identify more than 50 genetic conditions in just 18 months.
The Department of Ophthalmic Genetics has analysed 297 individuals from 225 families using specialised tests that examine DNA to identify the causes of inherited and other genetic conditions, many of which remain undiagnosed despite repeated medical investigations.
Led by Dr Rutaba Gul, head of the department, the facility has established a fully functional genetic testing laboratory supported by a specialist team. It has received referrals from more than 30 doctors across multiple hospitals and cities, as well as different departments within Al-Shifa Trust Eye Hospital, reflecting growing demand for genetic diagnosis in complicated cases.
The department is also developing a genetic database of patients and families to improve understanding of inherited conditions affecting the local population. It includes rare and unusual genetic findings that could help improve diagnoses and clinical decisions for future patients.
Genetic testing can help doctors identify diseases when routine investigations fail, assess the risk of complications and guide treatment. Where appropriate, it can support targeted therapies or personalised medication while reducing unnecessary investigations and associated costs.
These tests are particularly valuable for families affected by incurable genetic conditions. Even when no cure is available, identifying the underlying cause can help doctors explain the disease, assess potential complications and guide patients towards appropriate care.
The department also provides genetic counselling and prenatal testing, helping families understand inherited diseases, reproductive risks and available options. This is particularly important for households in which genetic eye conditions have affected several generations, enabling informed decisions about future pregnancies and early identification of genetic risks.
For families, a genetic diagnosis can bring an end to years of uncertainty, explain illnesses affecting relatives and provide a clearer understanding of possible future health risks.
Al-Shifa Trust Eye Hospital offers these services free of cost in some cases and at highly affordable rates for others, making genetic diagnosis more accessible in Pakistan. Dr Rutaba Gul said the department was combining modern technology, specialist expertise, counselling and a growing patient database to address an important healthcare gap and bring hope to families affected by rare and inherited diseases.
