Case Study: Genetics vs Lifestyle
A couple, part of the Auxano community recently got a comprehensive genetic test done via Sugarstrings.ai, to better understand their gene structure and the potential for adverse conditions in the future that can be passed to the next generation.
Test Results
Based on the test it was identified that a particular kidney disorder gene was present in the wife but not in the spouse.
In normal circumstances, the chances of the disorder passing on were 50%. However, as part of the genetic counseling provided by the geneticist (part of the SugarStrings team) they learnt that the gene responsible for it had a specific type of strand which can only be transferred to a male child. As a result, the couple was advised by the geneticist:
- Since this particular strand could show presence only in the first 10 years of child’s life, detection via regular Kidney Function Test (KFT) should be performed on the boy every 12–18 months to identify any anomalies in a timely manner
- With the probability of the kidney disorder being 50/50 (for male/female) and another 50/50 probability (for presence/absence), timely identification brings the combined probability of the disease further down.
Drug Reaction/Resistance
The test also provided a list of the drugs that have to be used with caution/avoided including basic drugs which the body was not suited to metabolize and should not be consumed as they would have lower efficacy and possibly adverse reaction
- A well know antacid, was poorly metabolized, thus alternatives should be used instead
- Antidepressants should be completely avoided was another suggestion
Lifestyle vs Genetic
Another case was wherein the child was having eye problems at an early age, since both parents were having similar issues hence the pre existing belief was that it is hereditary in nature.
The test indicated that both parents have different reasons for eye disorder which are autosomal recessive in nature, thus the eye issue faced by the child was not a function of genetics but lifestyle.
[Autosomal Recessive Disorders: Not passed on to the next generation unless both the parents have the same genetic disorder. Thus genetic disorders on an individual level may be present, but do not get transferred to the child]
The father had existing high blood pressure & cholesterol which were also believed to be hereditary in nature but were again identified to be influenced primarily by lifestyle factors.
Learnings
On the surface, genomics testing may appear to have limited utility, only indicating the presence/absence of any anomalies and can thus be avoided unless necessary.
However, avoiding it is like not looking at your car’s fuel gauge, should the fuel turn out to be low.
Testing provides insights whether the current health status is hereditary or lifestyle and can thus enable prevention and/or cure for anomalies.
Similar to how we match Kundlis to assess compatibility of couples based on ancient knowledge of planetary alignment, genetic tests can help identify potential genetic conditions that can surface in the current and/or next generation, providing additional context.
(Sci)enti(fi)c Applications
Advanced applications of genomics across domains is not something new:
- from genetically engineered tomatoes in Japan,
- solving decades old murder cases with forensic genealogy and
- even cloning an entire sheep from existing cells.
The primary reason why the field has progressed so far in the last two decades has to do with the lower cost of genome sequencing.
Much like Moore’s Law for computer chips which states that chips increase in compute power (roughly 2x) and decrease in costs every year, the costs of gene processing have come down.
In 2003, sequencing a human genome cost approximately $2.7 billion. Today, the cost has fallen to ~ $500, with projections suggesting further decreases.
Investment Landscape
In terms of funding, the sector has received lower investment in 2024 compared to previous years. The highest total funding for the sector was $20Bn in 2021, much of which was primarily driven by the need for genomic sequencing of the COVID-19 virus.
The current scenario can be attributed to the presence of several factors:
- Regulations: Genomics entities often face complex regulatory environments, particularly in healthcare applications.
- Ethical Considerations: Gene editing and privacy concerns surrounding genetic data require careful navigation.
- Long Development Cycles: Many genomics applications may require extended periods before commercialization.
- Intellectual Property: The genomics field is patent-intensive, necessitating robust IP strategies.
- Interdisciplinary Nature: Successful genomics ventures often require expertise in biology, computer science, and data analytics.
Based on the following map, fields such as Predictive testing, AI-based analysis and DNA-Based diagnosis which are not addressed by current market solutions have significant investment potential.
Emerging Opportunities
Emerging opportunities exist across various segments some of which are mentioned below:
- Precision Medicine: Genomics enables tailored medical treatments based on individual genetic profiles. These include gene therapies, pharmacogenomics applications, and personalized cancer treatments.
- Direct-to-Consumer Genomics: While the consumer genomics market has faced challenges, opportunities remain in ancestry testing, health risk assessment, and lifestyle genomics.
- Genome Editing: The introduction of CRISPR has made precise genome editing possible, offering potential treatments for diseases such as sickle cell and HIV, though it raises significant ethical concerns, particularly around the concept of ‘designer babies’ and ecological impacts like gene drives in mosquitoes.
Genomics Inset
Auxano’s portfolio companies are also operating in the genomics space:
- X focuses on gene based research (humans, animals, crops) and gene sequencing for enterprises enabled by their state of art lab in Bangalore equipped with Nova Seq. and over 3 decades of combined practical knowledge and database.
- Y utilizes AI/ML powered genetic models enabling its core preventive diagnosis product (identifying and reporting for 100 cancers and 105 heart diseases in an easy format for the average consumer) and providing valuable insights for precision medicine and lifestyle changes by a qualified geneticist.
Takeaway
Despite the challenges, the global genomics market is projected to grow substantially in the coming years, driven by continuing decrease in sequencing costs, broad clinical applications, and growing complexity of viruses and diseases.
Funding in infrastructure, particularly GPUs and cooling centers was required for AI companies to reach scale, similarly, investment in testing infrastructure and combining test insights with general medicine via partnerships with hospitals, will help in further adoption and expansion.
The future beckons us all — And as the adage goes — Prevention is better than cure.
Author:
Aditya Golani
