The human genome and 100,000 Genomes Project

Human genome 100,000 Genomes Project

Aims:

  • Identify the genes in the human genome and which chromosomes they are on.
  • Determine the sequence of the 3 billion base pairs in human DNA and store this information on databases.
  • Improve knowledge and understanding of genetic disorders
  • Improve diagnosis and treatment of genetic disorders
  • Consider the ethical, legal and social issues that arise from the project.

Aims:

  • Study variation in the genomes of 100,000 people.
  • Enable medical and scientific discovery.
  • Develop a UK genomics industry.

Methods used to sequence genome:

Sanger sequencing

Otherwise known as the chain termination method. This method took a year to sequence a million base pairs.

Methods used to sequence genome:

Next generation sequencing

Much faster than Sanger sequencing and includes methods such as passing DNA through nanopores in protein molecules

Link the correct term to the correct definition

Term

Definition

  • Genomics
  • Ethics
  • Genome
  • The analysis of the structure and function of Genomes.
  • The application of moral principles.
  • The complete set of genetic material in an Organism.

Ethical and other concerns

Is a child's DNA the property of the parent? Should parents have the right to know and not disclose any pre-disposition to disease?

Is electronically stored data ever safe?

Who owns genetic data?

Do patients want to know about future issues? Do their relatives have the right to this information?

Is the screening of embryos to choose the ‘best’ ethical?