Genetic Testing

Genetic testing identifies genetic patterns, including irregularities. In 2019, genetic testing is typically used to search for abnormalities and susceptibilities. However, new treatments under development target the specific traits of patients or disease. These treatments attack and cure at the genetic level. In addition, genetic testing is entertaining. People find unknown relatives or trace family origin.


In April 1953, James Watson and Francis Crick worked with Rosalind Franklin to discover that DNA is a double-helix. They explained how DNA self-replicates and encodes hereditary information. Eventually, Watson & Crick won the Nobel Prize for their work (Franklin died, rendering her ineligible). However, while they accurately described the form of DNA they did not explain the chromosomes that render our biological blueprint.

In 1956, Joe Him Tjio and Albert Levan released the first substantive work on chromosomes, the core of genetic testing. Particularly, they found human DNA contained 46, not 48 as previously believed. Almost more importantly, they identified how to read information from chromosomes.

Not long after, the earliest genetic testing began. Eventually, reports emerged concurrently identifying the genetic abnormality responsible for Down syndrome. Next came reports tying Turner and Klinefelter syndromes to genetic anomalies.

Markedly, progress identifying genetic differences proceeded slowly until the 1980s. Eventually, new technologies lowered the cost and increased the value of the information. By the 1990s, these techniques increased in speed and decreased in cost.

Human Genome Mapping

In 1990, scientists started a project to map the entire human genome, the Human Genome Project. It finished in April 2003, and cost about $2.7 billion USD. By late 2018, one company ran a sale to sequence an entire human genome for $200. The full price was $999 though the company, Veritas, predicts the retail price for a full DNA sequence will be $99 by 2024 at the latest.

Countless DNA sequencing companies exist that read and report partial DNA results. For example, 23 and Me offers a “Health + Ancestry Service.” For $199, customers receive over 125 gene-related health reports plus a fun family history report. The family history report, “Get a breakdown of your global ancestry by percentages, connect with DNA relatives and more,” costs $99 alone.

Human Genome Project

The Human Genome Project mapped the human genome, the DNA map of human life. It enables future genetic technologies that can cure disease, preemptively find problematic genes, or even allow genetic manipulation (designer babies).

Francis Watson was the initial lead. He is the Nobel Prize winning co-discoverer of DNA sequencing. As the project gained in size and scope, Collins took over.

Sulston led the UK part of the project that sequenced about 1/3rd of the genome. Venter worked for the Celera unit of Applera Corp., which was creating their own map.

There was collaboration and co-innovation.

Watson and Sulston have been awarded Nobel Prizes while scientists buzz that it’s only a matter of time until Collins is awarded the Nobel Prize. Many argue Venter also deserves a Nobel Prize. However, the prize committee has a history of shorting people working for private companies, no matter their merit. [See Raymond Damadian.]

The Human Genome Project, first published 2001 then published in a nicer form in 2003, took about a decade and cost about $1 billion USD. By 2020, industry sequencing leader Illumina predicts a full-body sequence will take about an hour and cost $100, and that time and cost will continue to decline.