Understanding the Human Genome (WJEC GCSE Biology)

Revision Note

Ruth Brindle

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Understanding the Human Genome

  • The entire set of genetic material of an organism is known as its genome

  • Biologists now know the entire human genome (they have worked out all the genes that are found in humans)

  • The Human Genome Project (completed in 2003) was the name of the international, collaborative research effort to determine the DNA sequence of the entire human genome and record every gene in human beings

  • This was a very important breakthrough for several reasons, including:

    • The prediction and prevention of diseases

    • The testing and treatment for inherited disorders

    • The development of new and improved medicines

Prediction and prevention of diseases

  • Diseases such as cancers and heart disease are partially caused by genes (as well as lifestyle factors)

  • A greater understanding of which genes predispose people to these diseases would enable doctors to provide people with much more specific advice on the best lifestyle and diet to help them avoid or delay the onset of these diseases

  • Doctors would also be much better at predicting what diseases someone might develop and ensuring early treatment if someone develops a disease

Testing and treatment for inherited disorders

  • Inherited disorders such as cystic fibrosis arise due to one or more faulty alleles in a person's genome

  • The Human Genome Project has allowed doctors to identify these faulty alleles much more quickly than in the past

  • Once these faulty alleles are identified, people can be tested for them and it is possible to develop treatments for the inherited disorder

Development of new and improved medicines

  • A greater understanding of how genetic variations can make people more susceptible to certain diseases has allowed doctors to design new medicinal drugs specifically tailored to those with genetic variations that affect how they react to specific diseases and treatments

    • It has also allowed these drugs or other treatments to be made more effective and have fewer side-effects

  • Doctors are also now able to much better predict how well an existing drug or other treatment will work for a specific person

Disadvantages of the Human Genome Project

  • There are also several potential drawbacks to the Human Genome Project, including:

    • Someone who is told they have a high chance of developing a certain genetic disease may suffer from increased anxiety and stress (and this could be completely unnecessary as they may never even develop the disease)

    • People with known genetic diseases and disorders (or who carry a faulty allele but do not have the disease themselves) could potentially be pressured into not having children

    • These same people may be unfairly discriminated against by employers (who may not want to hire them and invest resources in them in case they become ill) or insurers (who could make life insurance much more expensive for people they know are more likely to develop a fatal disease)

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Ruth Brindle

Author: Ruth Brindle

Expertise: Biology

Ruth graduated from Sheffield University with a degree in Biology and went on to teach Science in London whilst also completing an MA in innovation in Education. With 10 years of teaching experience across the 3 key science disciplines, Ruth decided to set up a tutoring business to support students in her local area. Ruth has worked with several exam boards and loves to use her experience to produce educational materials which make the mark schemes accessible to all students.