When inheritable genetic disorders are present in families.
A couple wanting to conceive may seek advice to determine the risk of their child having a disorder.
The incidence of genetic disorders within the couple families is analysed and sometimes, probability determined.
Genetic counselingHow is it done?
How is it done?
Diagnostic techniques can be conducted before birth to identify the presence of the genetic disorder
Tests such as Amniocentesis and Chorionic villus sampling (CVS) are used to collect a sample of DNA.
The sample is then checked for bio markers which indicated presence of the disease.
Genetic counseling
Why is it important?
Allows a couple planning to have a child to make an informed decision regarding:
Risks pre-conception or pre-birth of child inheriting genetic disorder
Pregnancy termination
Human Genome Project
What is it?
An international research effort to determine the DNA sequence of the entire human genome
How was it done?
Informed, anonymous volunteers gave blood sample for the study
3 billion bases of human DNA were read, letter by letter
In 1999, scientists mapped out the chromosomes developed and improved DNA analytical techniques. This allowed them to sequence over 80% of the genome in 1 year.
The full genome sequence was competed and published in 2003
Is the HGP complete?
Within the limits of todays tech, the human genome I as complete as it can be
Small gaps that are unrecoverable in any current sequencing method remain, amounting for about 1% of the gene-containing portion of the genome. New techs will have to be invented to obtain the sequence of these regions.
With the completion of HGP, the mission of the NHGRI has expanded to include studies aimed at understanding how the human genome functions in the role of creating gene products, most notably the many proteins for which genes code.
Benefits
Forensic applications - genetic fingerprinting of trace samples left at crime scenes
Improved genetic testing
Improved diagnosis - location of genes that might be lined to increased change of inserting a disease.
New gene therapy treatments.
Personalised medications
New knowledge of how humans have evolved.
Ethical concerns
In the future the gov want a copy of your genome on file?
Will your health insurance cost more if your genome indicates that you are at higher risk of developing cardiovascular disease or cancer?
If you were likely to develop a late onset disease like Parkinson’s or Dementia would you want to know?
Should we use genetic engineering to remove the genes for diseases like cystic fibrous from the genome of embryos?
Should we use genetic engineering to improve athleticism, intelligence and attractiveness in the genome of embryos?