Al-Shifa Trust Identifies Genetic Causes of Rare Eye Diseases in 225 Families
Hospital detects more than 50 genetic conditions in 18 months, offering new hope to families affected by inherited diseases
Genetic Testing helps Al-Shifa Trust identify rare inherited eye conditions.
Al-Shifa Trust Eye Hospital has identified more than 50 genetic conditions in 225 families over the past 18 months, helping patients find answers to unexplained illnesses and inherited eye diseases.
The hospital’s Department of Ophthalmic Genetics analysed 297 individuals from 225 families through specialised DNA tests. These tests help identify the genetic causes of inherited conditions that often remain undiagnosed despite repeated medical investigations.
Specialised Laboratory Expands Genetic Diagnosis
Led by department head Dr Rutaba Gul, the facility operates a fully functional genetic testing laboratory with a specialist team. It has received referrals from more than 30 doctors across multiple hospitals and cities. Other departments at Al-Shifa Trust Eye Hospital also refer patients for genetic assessment.
The growing number of referrals highlights the demand for genetic diagnosis in complex medical cases.
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Meanwhile, the department is developing a genetic database of patients and families. The database includes rare and unusual genetic findings that could improve understanding of inherited conditions in Pakistan. It may also support more accurate diagnoses and clinical decisions for future patients.
Genetic Testing Helps Guide Patient Care
Genetic testing can identify diseases when routine investigations fail. It can also help doctors assess the risk of complications and make informed treatment decisions.
Where appropriate, test results may support targeted therapies or personalised medication. They can also reduce unnecessary investigations and related costs.
These tests are particularly valuable for families affected by incurable genetic conditions. Although a diagnosis may not lead to a cure, it can explain the underlying cause of an illness. Doctors can then assess possible complications and guide patients towards appropriate care.
Counselling and Prenatal Testing Support Families
The department also offers genetic counselling and prenatal testing. These services help families understand inherited diseases, reproductive risks and available options.
They are especially important for households where genetic eye conditions have affected several generations. Early identification of genetic risks can help families make informed decisions about future pregnancies.
For many patients, a confirmed genetic diagnosis can end years of uncertainty. It can also explain illnesses affecting relatives and provide a clearer picture of potential health risks.
Affordable Services Improve Access
Al-Shifa Trust Eye Hospital provides genetic testing free of cost in some cases and at highly affordable rates in others, improving access to specialised diagnosis in Pakistan.
Dr Rutaba Gul said the department combines modern technology, specialist expertise, genetic counselling and a growing patient database to address an important healthcare gap. She added that these services aim to bring greater clarity and hope to families affected by rare and inherited diseases.
