Genetics and Counseling

Genes are the building blocks of heredity. They are segments of DNA and they hold the instructions for making proteins. Proteins do most of the work in the cell. They move molecules from one place to another, build structures, break down toxins, and insure chemical reactions takes place efficiently.

Sometimes mutations occur that can change a gene's instructions for making proteins. Mutations can cause a protein to function improperly or not at all causing a medical condition called a genetic disorder.

The Human Genome Project began in 1990 to develop technology for DNA analysis and concluded in 2003. Through sequencing the human genome, scientist gained a greater understanding in disease resaerch.Recent discoveries in the field of genomic research has opened the door to not only understanding genetic disorders but also improved treatment options to improve patients quality of life.

In the Webquest, you will build your knowledge in Non-Mendelian Genetics or Patterns of Inheritance by taking on the role of a genetic counselor.

A genetic counselor is a healthcare professional that specializes in genetics and counseling. As a genetic counselor, you will be able to help patients and their families understand their disorder, how it will affect them and provide them with the support needed to copewith their diagnosis. Genetic Counselors are able to read and interpret the family’s medical history by completing test crosses and creating a pedigree that show lineage. They also provide patients  with the latest treatment options that are available so they may recieve the best care possible within their means. 

You will research one of the three patterns of inheritance below:

• Single-gene disorders, where a mutation affects one gene
• Chromosomal disorders, where chromosomes or parts of chromosomes are missing or changed.
• Multifactorial disorders, where there is a combined mutation in two or more genes and their interaction with one another. Your lifestyle and environment often play a role with these conditions.

Your task in this quest will be to:

·         Learn the pattern of inheritance by identifying how the trait was inherited

·         Practice analyzing inheritance using Punnett squares

·         Read and analyze a family trait represented in a pedigree

·         Learn about the latest advances in genomic medicine

·         Learn about the bioethical issues that genetic testing raises

1. To better understand your role as a genetic counselor, click here
2. Begin research of your genetic disorder using U.S. National Library of Medicine. This website provides you with several current medical research databases located in one place.
1. Once you have identified the type of inheritance your disorder falls under, review the Learn Genetics Utah site for a Tour of Basic Genetics. Please view all tabs under basic genetics.
2. Use this sheet to organize your finding while researching your disorder and click here to begin.
3. View the following videos:[video:https://www.youtube.com/watch?v=h2xufrHWG3E#action=share] [video:https://www.youtube.com/watch?v=GieZ3pk9YVo#action=share align:center]
   
4. Complete the Punnett square interactive tutorial. This tutorial will help you set up Punnett square and interpret the results in a test cross. This skill is very important when explaining the risk of a mutated or lethal gene being passed on from parent to offspring. Create test cross by using a Punnett square with your genetic disorder. Please include the all possible genotypes and phenotypes and their percentage
5. Complete Pedigree Analysis interactive activity and pedigree analysis handout.
6. Identify medical advance specific to your disorder and examine the ethical issues surrounding genetic engineering. Here are some sites that may be useful:
   
   • http://www.medscape.com/viewarticle/505222_4
   • http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheetELSI
   • https://ghr.nlm.nih.gov/primer/therapy/ethics
   • https://www.ncbi.nlm.nih.gov/books/NBK115574/
   • https://www.genome.gov/10000202/fact-sheets/

Congratulations!

This webquest was created to increase your knowledge and understanding of how genetic disorders are inherited,diagnosed and to expose you to the latest treatment options that are available. It also should have expose you to the field of genetic counseling, medical research and the more efficient tools and technological testing used today. Understanding genetics leads to a greater understanding of evolution. Genes are not only affected by internal factors but external environmental factors can also play a role in gene expression but we will discuss that in the near future.