Question

What, in your own words, is human genome project (HGP)? What are its goals? Why is HGP an important part of the evolution of bioinformatics? Which legal and ethical issue will you select from the HGP website for further discussion? Why do you believe that the issue you have selected is of high importance for discussion? What are the criticisms or concerns surrounding this particular issue? What response or solution does the HGP provide for the concerns and criticisms of the above issue? Do they identify any of their own concerns? What role do you think medical informatics professionals should play in addressing such ethical, legal, or social issues? What is personalized medicine? What are the different applications? What are the legal and ethical considerations for personalized medicine, including HIPAA? What types of standards and interoperability issues must be addressed before adopting? What are some of the informatics issues that will need to be addressed in the next ten years?

Answer 1

Answer :

Human genome project : the human genome project was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA and of identifying and mapping all of the genes of human genome from both a physical and functional stand point.

• It is an international thirteen year project that began on october 1990.
• It is important because it uses information from DNA to develop new ways to treatment ,cure or even that afflict humankind .

Goals :

• To identify all the genes in human DNA .
• To develop a genetic linkage map of human genome
• To obtain a physical map of human genome
• To develop technology For the management of human genome information.
• To know the function of genes .
• Determine the sequences of the 3 billion chemical base pairs that makeup human DNA .
• Develop tools For data analysis .
• Transfer related technologies to the private sectors .

Importance of HGP :

1. Bioinformatics is a permutation of computer sciences and molecular biology .
2. Human genome project brings out the important incorporation of bioinformatics in genomics .
3. The human genome project important For bioinformatics when it comes to understanding diseases and ways to control their negative effect on the society.
4. Bioinformatics plays a vital role in the discovery of cures For diseases from the knowledge of the existing inter relationship between genes ,which the human genome project provided .

Ethical issue :

The ethical and social issues associated with the genome project have spurred a great deal of concern from the general public and researchers working within the project itself

One such issue that has been investigated is the potential For gene therapy .

Gene therapy involves locating a defective allele in an individual and replacing it with the correct allele .the genomic library created by the genome project will provide a way to determine what the correct sequence is at a particular loci and the correct base pairs may be able to be inserted into the affected individual if technology advances to the point .this has caused concern with many people because they feel that mankind would be taking the role of the supreme creator if gene therapy becomes a reality .

Currently molecular genetics has been able to identify metabolism defects due to a genetic alterations ,the metabolite is then synthesized in a msg and injected into the affected individual thus relieving them of the disease condition. This too many have ethical implications because We are correcting a deficiency that was present at birth ,thus altering the course of nature .

For example : descrimination based on genotype has also been raised .

Ex : employers may obtain genetic information on employees prior to hiring them .if a certain employee is shown to be genetically susceptible to undesirable work force traits they may be diccriminated against .

The same care is also possible For the afflicted individual .if a genetic linkage is discovered that links alcohol abuse with a certain allele .

Personalised medicine :

Ersonalised medicine is the tailoring of medical treatment to the individual characteristics of each patient .it is already having an exiting impact on both clinical research and patient care and this impact will grow as our understanding and technologies improve .

Based on the genomic characteristics ,the medicine will be given to patient to cure particular disease