Rapid personal gene sequencing

Rapid personal gene sequencing

What is rapid personal gene sequencing?

Rapid personal gene sequencing is the ability to read and store the info from the genome of a single person at an affordable cost.

There  exists two principal techniques of genome testing for personal genomics: single-nucleotide polymorphism (SNP) analysis and partial or full genome sequencing. Once these techniques identify the genotypes, researchers compare them to the growing body of knowledge to determine the possibility of trait expression and disease risk.

Comparing personal genotypes to the known data gives insight into medical risks for an individual as well as knowledge into personal ancestry.

How does it work?

23 and Me, one of the leading companies in personal genomics has a series of videos that best explain the inner working of genes and how the SNP techniques works: https://www.23andme.com/gen101/genes/

What else do we call it?

Personal genomics, full genome sequencing, predictive medicine

What is necessary to make it commonplace?

The cost of sequencing a genome directly affects how soon this will be available to everyone. The cost of full genome sequencing has dropped from $100,000,000 in 2001 to under $10,000 in 2013. SNP analysis costs much less, allowing companies to offer genotype analysis for under $100 per person.

Drop in cost of full genome sequencing

Drop in cost of full genome sequencing


Where can I find more about this?


Companies and services

  • 23andMe sells mail order kits for SNP genotyping. The information is stored in a user profile and used to estimate the genetic risk of the consumer for 178 diseases and conditions, as well as ancestry analysis. 23andMe utilizes a DNA array manufactured by Illumina.
  • Knome provides full genome (98% genome) sequencing services for $4,998 for whole genome sequencing and interpretation for consumers, or $29,500 for whole genome sequencing and analysis for researchers, depending on requirements.
  • The Genographic Project is a project of the National Geographic Society and IBM to collect DNA samples to map historical human migration patterns. Launched in 2005, with 500,000 public participants as of December 2012, it helped to create the direct-to-consumer (DTC) genetic testing industry.
  • deCODEme.com charges $1100 to carry out genotyping of approximately 1 million SNPs and provides risk estimates for 47 diseases as well as ancestry analyses.
  • Existence Genetics provides genetic testing services through healthcare providers and health and wellness organizations. As of mid-2013, this company provides testing for over 1,200 common and rare diseases and traits, including heart disease, cancer, autoimmune diseases, obesity, nutrigenomics, pharmacogenomics, fitness & athletic performance, preventable sudden cardiac death, and malignant hyperthermia. Existence Genetics provides fitness & athletic performance genetic testing services for Equinox Fitness.
  • Navigenics, began offering SNP-based genomic risk assessments as of April 2008. Navigenics is medically focused and emphasizes a clinician’s and genetic counselor’s role in interpreting results.
  • Pathway Genomics analyzes over 100 genetic markers to identify genetic risk for common health conditions such as melanoma, prostate cancer and rheumatoid arthritis.
  • Knome provides full genome (98% genome) sequencing services for $4,998 for whole genome sequencing and interpretation for consumers,or $29,500 for whole genome sequencing and analysis for researchers, depending on requirements.


  • The Personal Genome Project (PGP) is a long term, large cohort study based at Harvard Medical School which aims to sequence and publicize the complete genomes and medical records of 100,000 volunteers, in order to enable research into personal genomics and personalized medicine.
  • SNPedia is a wiki that collects and shares information about the consequences of DNA variations, and through the associated program Promethease, anyone who has obtained DNA data about themselves (from any company) can get a free, independent report containing risk assessments and related information.

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