Diagnostics help patients effectively manage their disease

Once a condition is identified, diagnostics information accompanies the patient along their journey – tracking their situation and providing information to help improve the quality of care. In many cases, aspects of a disease can be self-managed, guided by a healthcare provider’s advice. Self-management is becoming common practice for a range of chronic conditions such as diabetes, hypertension, arthritis, and some cancers. An emerging trend is self-diagnosis combined with the power of artificial intelligence tools1. This approach gives rapid and detailed interpretation of data, allowing a patient and their clinician to compare their situation with data from a pool of people living with similar conditions.

Different aspects of disease management include:

  • Disease trends and incidence across a population at the health system level

  • Programmes to advise specific patient and disease groups

  • Evidence-based guidelines that healthcare professionals use to match the most appropriate intervention to a person’s specific situation

  • Tools to better understand when adjustments to therapies will be beneficial

  • Education to encourage patient self-care and behaviour changes to influence how patients deal with their day-to-day situations

  • Education on the new tools and innovative technologies that are available and can save or improve the life of people living with a chronic disease

  • Access to clinical trials for patients who have few or no existing clinical options.

The value of artificial intelligence and machine learning

The power of artificial intelligence has arrived for diagnostics. Using these new tools, cardiology teams, for example, can make informed decisions more rapidly and conduct accurate prevalence and prevention studies using existing data. Dr Ameet Bakhai, a cardiologist at The Royal London Hospital, has recently published an approach that uses machine learning to rapidly analyse datasets to detect the potential of atrial fibrillation in patients.

Dr Bakhai explains that doctors can now predict, with 80% accuracy, if a person will develop atrial fibrillation within the next five years. A surprising aspect of this new diagnostic innovation is that it assesses the patient with no need for new blood tests or a new electrocardiogram. He says that nearly 90% of his team’s work is now managing patients remotely.

Molecular diagnostics for better disease management

To provide healthcare professionals and their patients with effective support, medical laboratories must be equipped to respond to growing diagnostic demands and, in extreme cases, surges caused by pandemics. Beyond responding to demands, epidemiological data resulting from these diagnostic tests provides essential information for disease tracking and a pathway for disease mitigation.

The emerging range of high-precision molecular diagnostics shows how new technologies help laboratories support healthcare professionals deliver better disease management. These tools analyse molecules – such as DNA, RNA or proteins – to rapidly identify a disease or health risk, complementing traditional clinical tests on blood and bodily fluids. They are, in some cases, the first step in ‘personalised medicine’ that analyses each patient, and helps healthcare professionals make genetic predictions of which drugs will work best in a specific individual.

Molecular diagnostics improve diagnosis and tracking of conditions ranging from respiratory infections to sexually transmitted infections, hepatitis, cancer, congenital infection transmission to newborns and vector-borne diseases. They are effective in identifying antimicrobial resistance – the condition that occurs when bacteria, viruses, fungi and parasites evolve and no longer respond to medicines. This makes infections harder to treat and increases the risk of disease spread, severe illness and death2.

Connie’s life with HIV

For AIDS advocate Connie Mudenda, personal experience with diagnostics and HIV/AIDS has shaped both her life and her life’s work. In the late 1980s and into the 1990s, when her first three children were born, AIDS testing and treatment were not readily available in her homeland of Zambia. Tragically, all three children died after she unknowingly passed the virus to them.

After fighting tuberculosis and other infections, Connie was later tested and diagnosed as HIV positive. “If I had delayed going to the community clinic for a test the day it was prescribed, I would likely have fallen seriously ill and died,” she recalls.

Thanks to antiretroviral medication and continued viral load testing to manage her condition, Connie has lived a healthy life for 16 years, and enjoys life with her nine-year-old HIV-negative daughter who was born after she started treatment. While the medication is not a cure, she says that it keeps the virus under control, which also eliminates or reduces the possibility of it transmitting to others. Today, she continues her work of sharing knowledge as to the importance and easy availability of HIV/AIDS testing and viral load monitoring.

New techniques to manage cancer

Many cancers can grow and spread to other parts of the body in secret, escaping detection until they reach advanced, difficult-to-treat stages. Even after initial diagnosis, staging and treatment, molecular changes within a tumour and new genetic mutations can occur long before they are identified clinically. For nearly a century, researchers have known that solid tumours release DNA into the blood 3. But scientists had not been able to apply this knowledge to develop blood tests that deliver clinically meaningful information.

Today, emerging new biomarker and genetic analysis techniques give doctors early warning of cancer risk – transforming approaches to care and improving the longer-term quality of disease management for cancer patients. Armed with data from these analyses, healthcare professionals can reduce a tumour's ability to resist treatment and progress without warning signs. These innovations include biomarker testing, liquid biopsy, and sophisticated genomic testing techniques.

Using only small amounts of blood or suspected cancer cells, doctors can now deliver more precisely targeted treatments and assess more rapidly if a treatment is working. Also in development is ‘representative sampling’, a new tissue sampling procedure that detects a range of cancer mutations in a solid tumour from a single tissue sample.

Tracking and beating lymphoma: Vince’s story

Vince Tarantola has been in remission from advanced lymphoma since 2015. He attributes his healthy condition to a combination of accurate diagnosis, an effective treatment plan, regular follow-up appointments with his oncologist to track and manage his situation – and a solid dose of optimism. Since the initial diagnosis, his blood monitoring and scans have been regularly reviewed. His advice? “Make sure you don’t put off your doctor’s appointments. Get your blood work done. And, if something does not feel right between appointments, reach out to your doctor. No one knows your body better than you.”

Today, patient self-management and testing, under the watchful eye of a healthcare professional, is common practice for many chronic conditions.

References

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658267/. Accessed 1 September 2022.

  2. https://www.who.int/news-room/fact-sheets/detail/antimicrobial-resistance. Accessed 1 September 2022.

  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957244/. Accessed 1 September 2022.

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