Personal Genomics: Powering the Future of Precision Medicine
VCBeat has previously introduced Precision medicine/Personalized medicine (Click here for details.), enabling the provision of more “personalized” and precise medical services to patients, thereby significantly improving therapeutic efficacy. Personal Genomics is a powerful tool for realizing “precision medicine.”What Is Personal Genomics?Personal Genomics, generally translated as “personal genomics,” is a branch of genomics that primarily focuses on the sequencing and analysis of individual genomes.
The massive “Human Genome Sequencing Project,” launched in 1990, aimed to obtain genetic information from a large number of individuals and synthesize it to establish a human “average” genome with “reference value.” However, each individual’s genome is unique. With the advancement of DNA sequencing technologies, it has become feasible for individuals to understand their own genomic profiles, both in terms of cost and practicality. This is what constitutes Personal Genomics.
Many diseases, such as sickle cell anemia, thalassemia, and cystic fibrosis, are closely linked to genetic factors. Common diseases typically have multiple causative factors, which are often the result of interactions among multiple genes and environmental influences.
In simple terms, Personal Genomics is of great significance in identifying genetic predispositions related to common diseases, disease-causing genes, familial traits, and the efficacy and adverse reactions of commonly used drugs.
The initial individuals to undergo “personal” genome sequencing primarily included Craig Venter, founder of Celera Genomics, and James Watson, co-discoverer of the DNA double helix structure. Steve Jobs, the co-founder of Apple Inc. and widely known as “Master Qiao,” was among the first 20 people in the world to learn his own genomic sequence, for which he paid $100,000. He also underwent cancer gene screening, hoping it would provide more useful information for his cancer treatment. (Ultimately, however, he did not survive cancer.)
In internet healthcare, Personal Genomics plays a pivotal role in disease prediction and precision medicine.
Personal Genomics can help predict an individual's likelihood of contracting a specific disease and enable personalized treatment and medication selection to maximize therapeutic efficacy.
Although accessing one’s personal genetic information remains a relatively new field, VCBeat believes that it will become a key component of medical research and disease treatment in the future. Personal genomics enables us to assess our health status from an unprecedented perspective, thereby improving our dietary and exercise habits. With advances in DNA sequencing and big data analytics, the cost of genetic testing has dropped significantly. In the foreseeable future, as related costs continue to decline, personal genomics will become an affordable, basic technology accessible to everyone.
The Cost of Personal Genomics Is Declining Year by Year
What Is the Use of Personal Genomics?By sequencing an individual's genome, researchers can gain a comprehensive understanding of their health status, such as their susceptibility to certain diseases.
One area where Personal Genomics is particularly useful is “pharmacogenomics.” For instance, genetic information from an individual can serve as a key basis for prescribing specific medications to patients. This enables physicians to maximize therapeutic efficacy while minimizing adverse effects to the greatest extent possible.
Personal Genomics can also be used to predict and identify genetic diseases. By gaining a detailed understanding of an individual’s genetic profile, it is possible to determine the likelihood that specific genetic variants will predispose the individual to certain genetic disorders.
Personal genomics also plays a crucial role in providing guidance to couples planning to have children. For instance, one parent may carry a pathogenic genetic variant that is recessive, meaning the parent does not manifest the associated disease. However, if one or both parents carry this variant, the risk of their offspring developing the condition in the future will be significantly elevated. Currently, some companies specialize in offering such genetic screening services for couples:《Recombine: Genetic Analysis Enables Personalized Eugenics and Healthy Childbearing》
Major Companies Currently Offering Personal Genomics Services
As an emerging technology, Personal Genomics currently offers genetic testing services that primarily include the following:
Education and Counseling
Medical Service Provision
Gene Test Results Interpretation
Information Analysis
Services Before and After the Testing Process to Enhance Patient Awareness
Leveraging Genetic Factors to Support Diagnostic and Therapeutic Decision-Making
Common applications of personal genomics mainly include:
Analysis of Carrier Status for Various Genetic Diseases, Such as Color Blindness and Sickle Cell Anemia
Identify the likelihood of developing various common diseases, such as diabetes and coronary heart disease.
Understanding the Genetic Causes of Various Diseases, Including Asthma and Pulmonary Fibrosis
Understanding Familial Risk for Breast and Colorectal Cancer
Lower incidence of adverse drug reactions
Genetic Comparison with Ancestors
Genetic Counseling to Reduce or Avoid Genetic Diseases
Current Market and Development TrendsAccording to data from Markets and Markets, the personal genomics market is projected to grow from $11.1 billion in 2013 to $19 billion in 2018, representing a compound annual growth rate (CAGR) of 12%. This market primarily encompasses the following key sectors:
Products (Instruments, Consumables, Services)
Technologies (nucleic acid extraction and purification, polymerase chain reaction [PCR], DNA sequencing, DNA microarrays)
Applications (Diagnosis, New Drug Development, Academic Research, Agriculture and Animal Studies, Personalized Medicine, and Others)
The largest segment in the product market is consumables, accounting for 60% of total market revenue.。The main drivers of the development of the personal genomics market include:
Expansion of Genomics Research and Experimental Applications
Declining Costs of Instruments and Consumables
Integration of Genomics from Laboratory to Clinical Application
Greater Transparency in the Oversight of Inspection and Approval Procedures
Advances in Next-Generation Whole Genome Sequencing Technology
Good Compensatory Mechanism
Increase in Government Investment
An increasing number of physicians are getting involved.
The Development of Bioinformatics Itself
Gradual Consumer Acceptance
The main constraints on the development of the personal genomics market are:
Awareness of genetic mutations remains low in most parts of the world.
Most gene sequencing technologies are still unable to perform whole-genome sequencing.
Most screening services can only detect a limited number of diseases.
High Costs of DNA Sequencing
The Approval Process Remains Complex
VCBeat’s Chief Advisor for Analysis of Trending English Terms in Internet Healthcare: Zhao Xinyuan, current CEO of Beijing Yingtai Kelong Technology Co., Ltd., and Member of the HL7 China Technical Steering Committee.VCBeat is currently recruiting volunteers to analyze trending English terms in digital health. We welcome you to share your insights. Please follow the VCBeat WeChat official account and contact us!