Blog
Introduction: Generic Counseling and Inheritance-Modified from “Genetic Counseling,” Collaborative learning activity, McGraw-HillA genetic counselor is a health
Introduction: Generic Counseling and Inheritance-Modified from “Genetic Counseling,” Collaborative learning activity, McGraw-Hill
A genetic counselor is a health care professional that advises couples or individuals about the risk of occurrence of a genetic condition in themselves or their offspring. The counselor educates people about the basic principles of inheritance and helps them to make informed decisions about reproduction and/or management of a genetic condition. These conditions could range from genetic diseases and cancer to predisposition to mental illness that runs in a family.
Genetic counselors may also advise people about how to interpret the results of genetic screening tests and what to do when a family member has been diagnosed with a genetic condition. Since most of the people who meet with the counselors have little or no background in genetics or even biology in general, a counselor must be able to help people understand their situation in a nontechnical way if possible. In the United States, certified genetic counselors must have a Master of Science (MS) degree from an American Board of Genetic Counselors accredited program.
In this assignment, you will be advising couples about the risk of genetic diseases in their offspring if they choose to have children.
Prompts:
Basics of Inheritance: As a genetic counselor, one must be able to explain the basics of genetics and inheritance to each couple or individual that comes in for counseling.
1. Write a brief explanation of the following topics in plain, non-technical language: DNA and chromosomes, genes, and dominant and recessive alleles.
Will all of our children be disease free?: Suppose a married couple comes to you for counseling. Both of them are affected with a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal all of their future children would be normal as well.
2. Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal dominant disease, and the parents are both heterozygotes).
Cystic Fibrosis: Suppose a couple has come to see you to discuss the probability of their children having cystic fibrosis (CF). CF is known to be an autosomal recessive disease caused by a single gene mutation that has effects including thick mucus in the lungs and excessively salty sweat. After discussions with the couple, you learn that they both have a history of the disease in their families. They have been told they are “carriers” of CF
3. Explain to the couple the probability of their children having CF or being carriers for the CF gene.
4. Explain to them why their children can have the disease even though neither of them have the disease.
Draw a Punnett square to help illustrate your points (see diagram below). Tip: Insert a 2×2 Table in MS Word to act as your Punnett Square.
Interpreting a pedigree As a genetic counselor, you might need to interpret the likelihood of a couple passing on a disease based on a pedigree.
Consider the example below, tracking the family history of hypercholesterolemia, high cholesterol, based on a reduced number of LDL receptors.
Examine the pedigree below, and consult section 10.8, figure 10.26 if needed.
5. Is this disease autosomal dominant or recessive? Explain your reasoning based on this pedigree.
