Acute promyelocytic leukaemia (APL) is a rare and aggressive blood cancer. It arises from a genetic mutation involving the fusion of the PML and RARA genes. This fusion leads to a reduction in white blood cells and platelets, compromising the body’s ability to fight infections and control bleeding. APL can result in severe internal bleeding, necessitating immediate treatment to prevent death. However, it is highly curable if diagnosed early.
About Acute Promyelocytic Leukaemia
APL is a subtype of acute myeloid leukaemia (AML). It represents 10-15% of newly diagnosed AML cases. The median age of diagnosis is around 34 years, with a male to female ratio of 1.5:1. Symptoms often include sudden bleeding from the gums and nose, fatigue, fever, and bone pain. These symptoms can mimic other conditions, complicating diagnosis.
Challenges in Current Diagnostic Methods
Current diagnostic tests for APL can be slow and costly. They often require expensive machinery and trained specialists, making them inaccessible in rural or under-resourced hospitals. Delays in diagnosis can lead to fatal outcomes as immediate treatment is crucial.
The RAPID-CRISPR Test
To address these challenges, researchers at ACTREC developed the RAPID-CRISPR test. This innovative test can diagnose APL in under three hours. It is cost-effective and does not necessitate complex laboratory equipment. The test detects the PML-RARA gene mutation directly from a patient’s blood sample.
How RAPID-CRISPR Works
The RAPID-CRISPR test employs CRISPR technology for molecular diagnosis. It identifies the PML-RARA mutation in blood samples and triggers a signal upon detection. Results are displayed on a lateral flow strip, similar to a home pregnancy test. This method boasts nearly 100% sensitivity and specificity.
Advantages of RAPID-CRISPR
RAPID-CRISPR is ten times more sensitive than traditional tests. It can accurately identify APL even with a single copy of the mutation present. The test simplifies the diagnostic process, making it feasible for hospitals lacking advanced technology.
Future Developments
The test currently uses three strips to detect different isoforms of the PML-RARA gene. Researchers are working on optimising it to use a single strip for all isoforms. Future advancements may enable at-home testing, further improving accessibility.
Significance for Global Health
The RAPID-CRISPR test has the potential to transform APL diagnosis, especially in developing countries. By providing rapid and accurate results, it can facilitate timely treatment, ultimately saving lives.
Questions for UPSC:
- Examine the implications of rapid diagnostic tests on public health policy.
- Discuss in the light of acute promyelocytic leukaemia and its treatment, the role of genetic research in modern medicine.
- Critically discuss the barriers to healthcare access in rural areas and suggest measures to overcome them.
- With suitable examples, discuss the impact of technological advancements on disease diagnosis in developing countries.
Answer Hints:
1. Examine the implications of rapid diagnostic tests on public health policy.
- Rapid diagnostic tests can lead to quicker identification of diseases, improving patient outcomes.
- They can reduce healthcare costs by minimizing the need for extensive laboratory procedures.
- Public health policies may shift focus to early detection and prevention strategies.
- Increased accessibility can reduce disparities in healthcare, especially in underserved areas.
- Effective use of rapid tests can enhance surveillance and response to outbreaks.
2. Discuss in the light of acute promyelocytic leukaemia and its treatment, the role of genetic research in modern medicine.
- Genetic research has enabled the identification of specific mutations like PML-RARA in APL.
- About genetic factors allows for targeted therapies, improving treatment efficacy.
- Research contributes to the development of novel diagnostic tools, such as RAPID-CRISPR.
- Genetic insights can inform personalized medicine approaches, tailoring treatments to individual patients.
- Advancements in genetics enhance the ability to predict disease risk and outcomes.
3. Critically discuss the barriers to healthcare access in rural areas and suggest measures to overcome them.
- Limited availability of specialized medical facilities and trained personnel in rural areas.
- High costs of diagnostic tests and treatments often prevent access to necessary care.
- Transportation challenges can hinder patients from reaching healthcare facilities promptly.
- Telemedicine can bridge the gap by providing remote consultations and follow-ups.
- Government initiatives can promote mobile health clinics and subsidized healthcare programs.
4. With suitable examples, discuss the impact of technological advancements on disease diagnosis in developing countries.
- Technological advancements like CRISPR have improved the accuracy and speed of disease diagnosis.
- Portable diagnostic devices enable testing in remote areas without complex lab setups.
- Telehealth platforms facilitate access to specialist consultations, improving diagnosis rates.
- Examples include rapid tests for infectious diseases like malaria and HIV, enhancing public health responses.
- Investments in technology can lead to sustainable healthcare solutions and capacity building.
