Can Digital Healthcare Help Cure Rare Genetic Disorders?

Millions of individuals globally suffer from rare genetic disorders and have few treatment alternatives.   With AI technology, genomic sequencing, telemedicine, and other advanced digital services, healthcare providers can detect, monitor, and manage genetic disorders. Digital healthcare improves patient outcomes and speeds up the research needed to create these cures.  

Read Tedrick Bairn's Digital Healthcare to know more about the impact of digital healthcare on science. It highlights how technology influences modern healthcare practices.  

Rare Genetic Disorders

A rare genetic disorder is any condition that less than 200,000 people suffer from in the U.S., Such as Cystic Fibrosis, Huntington's Disease, Duchenne Muscular Dystrophy, etc.

Finding an effective solution to a problem can become challenging, when necessary, practices are avoided or neglected entirely. Because rare diseases often require further study, traditional treatment practices become inefficient or only partially helpful. 

Many healthcare providers struggle with the conditions' complications, making understanding the patient's genetic history tricky. As a result, patients are forced to consult a multitude of specialists to receive a diagnosis. Unfortunately, the patient does not accept the needed help even after exhausting all options. The problem is compounded by a healthcare system where knowledge is limited, and doctors do not have the time to study the specifics of a patient's case. 

Pharmaceutical companies know how expensive and lengthy it is to create remedies for disorders caused by genetics; therefore, they avoid putting their resources into it because the return on investment is drastically low. Even so, there are no effective therapies available. But with the rise of digital healthcare, everything is changing: a quick and precise diagnosis and innovation in personalized medicine means increased investment into research. 

AI and Genomic Sequencing: New Age of Diagnosis 

AI integration into genomic sequencing has dramatically increased the rate at which astronomically rare genetic disorders are diagnosed. Thanks to improved healthcare technology, genetic testing can now be performed at a lower cost and in a reasonable timeframe. 

AI cannot only automate processes but also efficiently recognize patterns in genetic data, which means it can eliminate the need for an entire department of specialists to examine genetic databases for specific mutations. Moreover, AI is aiding physicians in interpreting complex genetic information. AI can use machine learning to make specific mutations that would have been too complex to identify using traditional methods more manageable. Companies like Deep Genomics and DeepMind, a subsidiary of Google, are looking into ways of using AI to determine the implications of genetic mutations on the functions of proteins to create new drug therapies for orphan disorders.

Telemedicine - Making It Easier to Access Experts 

Finding specialists for their particular situation is a challenge for patients with genetic illnesses.  Due to their complexity, some uncommon diseases necessitate a geneticist or significant medical care, which varies by location.  Here, telemedicine serves as a conduit between medical personnel and patients.

Through these online consultations, patients can now consult leading professionals from any corner of the world without traveling great distances. Telemedicine has also made it easier for patients and the whole family to receive guidance on education and management of the disorder through remote genetic counseling. This has proved to be especially useful for people who live in the countryside and require personalized medical attention. 

Digital Therapeutics and Personalized Medicine 

Digital health powerfully transforms healthcare systems by enabling the emergence of personalized therapies for uncommon genetic disorders. Most Conventional medicine tends to be "generic," which is usually inappropriate for disease processes involving specific genetic alterations. With digital healthcare, a new paradigm of personalized medicine aimed at specific genetic alterations can be implemented. 

Rare disease patients are now getting help through digital therapeutics as these software-based medical devices are also used. Such mobile applications can help alleviate the symptoms, monitor the disease and its progression, and offer real-time health parameters to the physician. For instance, some applications deploy artificial intelligence to observe and assess the neurologic symptoms of Parkinson's disease and provide much-needed data to healthcare professionals as a basis for treatment modification.  Moreover, AI tools for drug discovery are being developed to treat uncommon diseases.

AI can examine existing medications to see if they can be adapted into therapies for uncommon genetic conditions, which helps speed up the process of efficacious therapies. This method has already helped uncover new drugs for other diseases, like spinal muscular atrophy. 

Gene Editing and The Future Cures 

Digital health care is rapidly scaling, and so is the tech behind it. One industry that has seen massive change is rare genetic disorders. The advancement of gene editing technologies like CRISPR is aiding greatly. Thanks to CRISPR, genetic scientists can edit out the faulty genes that caused the genetic disorder in the first place. It's a potential cure right there. 

AI is significantly increasing the accuracy of gene editing by reducing the likelihood of errors during the modification. As the world of digital healthcare expands and genetics is incorporated, scientists are getting closer and closer to creating therapies that could potentially treat untreatable conditions. 

Several ongoing clinical trials are already using the gene-editing approach on patients suffering from diseases like sickle cell anemia and inherited blindness. Though these medicines are still not perfected, as they are in the initial stages and have a long way to go, they mark a leap in changing the narrative surrounding rare genetic disorders from just symptom relief to total cures.   

The Role of Digital Health Care in Clinical Trials 

Finding new ways to treat rare diseases through clinical trials requires a lot of resources, time, and effort. As difficult as it sounds, it can be even harder to find willing patients to volunteer because few people are affected by the disorder.

Health care is evolving immensely through technology, as patients no longer have to travel to participate in the necessary medical research. They can do so from the comfort of their own homes.  

Digital channels allow researchers to capture data from a patient as it happens, using telehealth to provide follow-up appointments and check-ins and remotely check on the patient. Also, AI can help by analyzing the data faster so that you can receive information on the medicine as quickly as possible. Digital healthcare is speeding up the development of pivotal treatments through these improvements in clinical trial maintenance and management. 

Challenges and Ethical Considerations 

Health care has its hurdles, such as treatment strategies for selected rare genetic conditions. Data privacy is one of the most complex hurdles that comes with digital healthcare. A person's genetic data is highly sensitive information. We must safeguard patient data and use it ethically to avoid losing the public's trust.  

One of the biggest challenges is the investment needed to implement modern digital health technologies. Although AI-driven diagnostics and genomic sequencing have become more affordable, they are still expensive for most patients living in poverty-stricken areas. Measures should be taken to ensure these new technologies are accessible to everyone, regardless of the socioeconomic state of the region.  

The Future of Digital Healthcare for Rare Diseases 

Health care for rare genetic disorders is going to the next level: every step of the process, from diagnosis to treatment and, in some cases, even curing, will be computerized. Gene editing, telemedicine, AI-driven telemedicine, and digital therapeutics are vital components essential for efficient care procedures in rare diseases. With the evolution of technology, it is just a matter of time before we achieve better patient outcomes and rid ourselves of the world's toughest genetic problems.