Direct-to-Consumer Genetic Testing

2011 ◽  
pp. 51-84 ◽  
Author(s):  
Richard A. Stein

The 1953 discovery of the DNA double-helical structure by James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin, represented one of the most significant advances in the biomedical world (Watson and Crick 1953; Maddox 2003). Almost half a century after this landmark event, in February 2001, the initial draft sequences of the human genome were published (Lander et al., 2001; Venter et al., 2001) and, in April 2003, the International Human Genome Sequencing Consortium reported the completion of the Human Genome Project, a massive international collaborative endeavor that started in 1990 and is thought to represent the most ambitious undertaking in the history of biology (Collins et al., 2003; Thangadurai, 2004; National Human Genome Research Institute). The Human Genome Project provided a plethora of genetic and genomic information that significantly changed our perspectives on biomedical and social sciences. The sequencing of the first human genome was a 13-year, 2.7-billion-dollar effort that relied on the automated Sanger (dideoxy or chain termination) method, which was developed in 1977, around the same time as the Maxam-Gilbert (chemical) sequencing, and subsequently became the most frequently used approach for several decades (Sanger et al., 1975; Maxam & Gilbert, 1977; Sanger et al., 1977). The new generations of DNA sequencing technologies, known as next-generation (second generation) and next-next-generation (third generation) sequencing, which started to be commercialized in 2005, enabled the cost-effective sequencing of large chromosomal regions during progressively shorter time frames, and opened the possibility for new applications, such as the sequencing of single-cell genomes (Service, 2006; Blow, 2008; Morozova and Marra, 2008; Metzker, 2010).

Author(s):  
John Archibald

The initial phase of human genome sequencing is often referred to as ‘the’ Human Genome Project. But there were two different projects, one publicly funded, the other supported by a private company, Craig Venter’s Celera Genomics. ‘The human genome in biology and medicine’ explains that both projects used DNA samples from more than one person. It was not until 2007 that the first genome of a single individual was published. The structure of the nuclear DNA and mitochondrial genome is also described. Genomics research is having a profound impact on our understanding of the genetic, biochemical, and cell biological underpinnings of cancer, and how it can be detected and treated.


Biomolecules ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 90
Author(s):  
Ryuji Hamamoto

The Human Genome Project, completed in 2003 by an international consortium, is considered one of the most important achievements for mankind in the 21st century [...]


1993 ◽  
Vol 36 (3) ◽  
pp. 466-475 ◽  
Author(s):  
BELINDA J. F. ROSSITER ◽  
C THOMAS CASKEY

Genes ◽  
2014 ◽  
Vol 5 (3) ◽  
pp. 518-535 ◽  
Author(s):  
Jessica Bailey ◽  
Margaret Pericak-Vance ◽  
Jonathan Haines

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