Genomics
Genomics is a scientific field that studies the structure, function, and sequence of an organism’s genome. It uses DNA sequencing, bioinformatics, and other tools to understand how genes interact and how an organism’s genome relates to its phenotype.
The Emergence of AI-Based Genomics
- Accelerated Gene Analysis
- The processing of gene data by AI has speeded up to facilitate more comprehensive studies.
- Breakthrough in Cancer Studies
- In March 2024, researchers at John Hopkins University discovered that long-known genetic sequences are associated with cancer.
- Machine learning analyzed over 1,200+ “junk DNA” elements which opened new doors for potential therapies, diagnostics, and even screening for cancer.
- AI in Genetic Healthcare
- Gene Box, a healthcare startup, is applying AI in analyzing genetic predispositions, gene-environment interactions, and personalized recommendations.
- Continuous updates ensure findings are aligned with the latest scientific research.
Challenges and Limitations
- Genetic Predictions are Not Infallible
- Factors such as intelligence, success, or personality cannot be solely predetermined based on genetics.
- Genetics influences only about 30% of characteristics, while environmental and lifestyle factors dominate the other parts.
- Unreliable Diagnosis
- Many genetic discoveries are labeled as “of unknown significance”, which may necessitate further family testing.
- Example: Alzheimer’s genes—having risky genes does not mean guaranteed disease, one can develop Alzheimer’s even without those associated genes.
- Ethical Concerns in Mental Health Genomics
- AI-driven predictions of genes for conditions such as depression or heart diseases require tougher guidelines to prevent misuse or even misinterpretation.
Data Privacy Concerns with Genetic Testing
- Boom in AI-Genomics Startups
- Nucleus, a startup backed by investors like Peter Thiel and Alexis Ohanian, aims to make genetic analysis mainstream.
- Its founder envisions a future where “everyone has their entire genome on their iPhone,” raising data security risks.
- Data Breach
- In October 2023, a massive cyberattack exposed personal genetic data of 6.9 million users.
- The company faced fines of $30 million and lost most of its board and workforce.
- Users are forced to find it very difficult to withdraw the genetic data, especially those who had opted into research programs.
- Lack of HIPAA protections leaves consumer genetic data open for exploitation.
