Official website: ptgd.punjab.gov.pk

Impact to Date

Introduction

The Punjab Thalassaemia and other Genetic Disorders Prevention and Research Institute (PTGD) is an initiative of the Government of the Punjab to provide screening and prevention services for Beta Thalassaemia and other genetic conditions in the province. The PTGD is attached to Fatima Jinnah Medical University, Lahore and provides comprehensive screening and prevention services in all 36 districts of Punjab. Its head office is based in the outdoor building of Sir Ganga Ram Hospital, Lahore.

Why It Matters

Pakistan is the fifth most populated country in the world, and the cultural tradition of consanguineous marriages has resulted in a high prevalence of genetic conditions. Beta Thalassaemia is the most common genetic disorder in Pakistan, with a gene prevalence rate of around 6% — meaning 6 out of every 100 Pakistanis carry this mutant gene. With a population of about 200 million, around 12 million people are healthy carriers.

Thalassaemia is an autosomal recessive disease: if two carriers marry, they have a 1 in 4 (25%) chance of having a child with Beta Thalassaemia Major in every pregnancy. Over 6,000 affected children are born annually — 17 every day. These children require regular monthly blood transfusions and chelation therapy to remove excess iron from their bodies simply to stay alive, at an estimated cost of Rs. 600,000 per child per year.

Currently the majority of patients in Pakistan do not receive adequate treatment; the transfusion of safe blood in particular has been a significant problem, and many thalassaemia patients are positive for infections such as Hepatitis B, Hepatitis C and HIV. Since there is no easily available cure, the only hope lies in adopting a preventive programme along the lines pursued by countries such as Italy, Cyprus and Iran, which has resulted in either complete control or significant reduction in the births of new Thalassaemia Major children.

Considering the gravity of the issue, the Government of the Punjab initiated the Punjab Thalassaemia Prevention Programme (PTPP) in 2009–2010. The PTPP proved highly successful, and the Specialized Healthcare & Medical Education Department decided to widen its scope to other genetic conditions and make it permanent. In July 2021 the PTPP was converted into an ongoing programme, the PTGD, as an affiliated unit of Fatima Jinnah Medical University, Lahore.

Services — Free of Cost

The PTGD provides the following comprehensive screening and prevention services for genetic conditions, entirely free of cost, in all 36 districts of Punjab:

Network & Infrastructure

The institute’s head office is in Lahore, with nine regional centres situated in all nine divisional headquarters of Punjab. Each of the 36 districts is attached to a respective regional centre. The institute also has a community outreach component: in each district a mobile field team (Field Officers) provides targeted screening of extended families of affected individuals, as well as pre-marital screening for the general population, at their doorsteps.

How the Laboratory Workflow Works

The PTGD operates comprehensive online lab software with machine integration and real-time reporting to patients and families. Field Officers collect blood samples in the field and enter the data online. All samples are received in the labs bar-coded and under maintained cold chain. Machines are computer-integrated, so results reach Consultant Haematologists in real time; once reported, results return to Field Officers immediately. Every Field Officer is equipped with a laptop, printer and internet connection, and delivers printed results to clients observing confidentiality. Genetic counselling is then provided according to the results.

So far the PTGD has screened over 312,259 individuals from 11,289 thalassaemia families. The results demonstrate the effectiveness of extended family screening — one third of individuals in thalassaemia families are found to be carriers of Beta Thalassaemia. These carriers can then make informed decisions regarding marriage and prenatal diagnosis, so that the births of Thalassaemia Major children may be prevented.

Prenatal Diagnosis

The development of techniques for diagnosing a genetic disorder in utero is a major advancement in medical genetics, and it has altered the outlook for families at risk of having affected children. Prenatal diagnosis allows a genetic disorder such as Thalassaemia to be identified early in pregnancy. This has helped prevent the births of children with Thalassaemia Major in countries such as Cyprus, Italy, Greece, Turkey and Iran, which have prevalence rates as high as 5–17%.

Chorionic Villus Sampling (CVS) is a widely accepted and successful method of prenatal diagnosis, carried out during early pregnancy at 11–15 weeks of gestation to detect specific abnormalities in an unborn baby. A sample of cells is taken from the placenta (fetal in origin) and tested for genetic defects. CVS is offered in pregnancies at high risk of a serious inherited condition such as Thalassaemia or Down’s syndrome.

The PTGD provides the CVS test facility at all nine of its regional centres, performed by obstetricians and gynaecologists trained in the procedure and in ultrasonography. The service does not stop at diagnosis: couples who undergo the procedure are counselled before and after the test, to ensure they understand why they are taking it and to receive professional guidance about the choices available to them in managing the pregnancy.

DNA Laboratory

The PTGD has established a DNA Lab at Sir Ganga Ram Hospital, Lahore — the first public sector DNA lab in the country providing free genetic testing and prenatal diagnosis services for Thalassaemia. It offers Beta Thalassaemia prenatal diagnosis, Beta Thalassaemia diagnostic PCR, PCR SNP analysis for quantitative trait loci (QTL) in beta thalassaemia patients, and mutation analysis of other haemoglobinopathies.

The lab uses modern molecular techniques including ARMS PCR, Gap PCR, high resolution melt curve analysis by Real Time PCR, and direct DNA sequencing for mutation detection. For prenatal diagnosis, chorionic villi of the fetus and blood samples of the carrier couple are required. DNA is extracted using commercially available kits; a first round of multiplex ARMS PCR identifies the mutation in the carrier couple, and a second round detects inheritance of the mutation in the fetus, which may be heterozygous, homozygous or normal. Results are communicated to the patient followed by an extensive genetic counselling session, allowing couples with an affected fetus to make an informed decision. Average reporting time is two weeks from receipt of the sample.

The DNA Lab has also conducted a number of research activities for better understanding of the disease, and has identified many rare and novel mutations in Beta Thalassaemia patients which are in the process of publication.

Expansion to Other Genetic Disorders

In September 2022 the Specialized Healthcare & Medical Education Department, Punjab approved a PC-1 for the expansion of PTGD services to cover screening and prevention for other genetic conditions. Under this initiative the PTGD will establish state-of-the-art molecular and cytogenetics laboratories capable of highly specialised testing such as Sanger sequencing, Whole Exome Sequencing, Whole Genome Sequencing, Next Generation Sequencing and the latest cytogenetic techniques.

Eminent Pioneers