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2.1.1 Chronicles of a Genetic Counselor

Chronicles of a Genetic Counselor
by

Lori Richardson

on 11 November 2015

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Transcript of 2.1.1 Chronicles of a Genetic Counselor

Activity 2.1.1:
Chronicles of a Genetic Counselor
Both of the Smith brothers are faced with difficult questions regarding the health of their future offspring. James and his wife will soon be
having a new baby. Aaron and
his wife are hoping to become
parents. Tests that screen for
abnormalities in the genes can
provide information about their
children before they are
conceived or before they are born.
Scientists have worked tirelessly to decode our genetic code. The goals of the Human Genome Project were to determine the sequence of the three billion base pairs that make up human DNA, identify all of the genes, and devise a method to store and analyze all of the data.
Our genome consists of over three billion base pairs. Surprisingly, less than one percent of these A’s, C’s, G’s and T’s differ from person to person. Differences in our DNA help code for our unique appearance, personality, traits, and even our susceptibility to disease. Genetic diseases and disorders are illnesses that originate in our chromosomes and DNA. These genetic changes can be passed down from parent to child. Modern biology has given scientists the tools to examine changes in our DNA and to test for the presence of thousands of these genetic diseases.
Genetic testing is the use of molecular methods to determine if someone has a genetic disorder, will develop one, or is a carrier of a genetic illness. Genetic testing
involves sampling a
person’s DNA and
examining the
chromosomes or
genes for
abnormalities. The
abnormality may be
large – a large piece of
a chromosome or a
missing chromosome
may be viewed under
a microscope.
In this activity, you are in the final steps of your training to become a genetic counselor. As a practical exam, you are asked to chronicle the case of one of your clients. Your notes on the case should showcase your expertise, your compassion, and your ability to provide clear, understandable options and advice. You will be assessed on the depth of your research, the sensitivity you show towards your client and the thoroughness of your analysis and recommendations.
They both hope that a genetic counselor can offer advice and help them navigate their reproductive choices. A genetic counselor can help a family understand the risks of having a child with a genetic disorder, the medical facts about an already diagnosed condition, and other information necessary for a person or a couple to make decisions suitable to their cultural, religious and moral beliefs.
The completion of this project in 2003 gave us the “parts list” for a human being. While scientists are still working to figure out how all of these parts fit together, they have learned the specific function of many genes in our genetic code, as well as how these genes determine traits and sometimes even signal disease.
Other abnormalities may be the result of a single base pair change – substitutions, deletions, or additions – in a single gene. Information from the Human Genome Project is expanding the uses of genetic testing to examine not only reproductive risks, but adult-onset conditions such as Huntington’s disease, mental illness, and even cancer.
Take the Genetic Testing Survey
Your Thoughts
Genetic Disorders Presentation
Take Notes
What are
Genetic Disorders?
Both environmental and genetic factors play a role in the development of disease.

A genetic disorder is a disease caused by abnormalities in an individual’s genetic material.

In this course, we will consider four different types of genetic disorders:
Single-gene
Multifactorial
Chromosomal
Mitochondrial
Single gene disorders
are caused by changes or mutations that occur in the DNA sequence of one gene.

Remember that a gene, a segment of DNA, contains instructions for the production of a protein.

Diseases and disorders result when a gene is mutated resulting in a protein product that can no longer carry out its normal job.
Single gene disorders are inherited in recognizable patterns:

Autosomal dominant - Only one abnormal gene from one parent
Autosomal recessive - Only one abnormal gene from both parents
Sex linked - An abnormal gene passed on either the X or Y
Multifactorial disorders
are caused by a combination of environmental factors and mutations in multiple genes.

Development of heart disease is associated with multiple genes, as well as lifestyle and environmental factors.

Different genes that influence breast cancer development have been found on chromosomes 6, 11, 13, 14, 15, 17 & 22.

Many of the most common chronic illnesses are multifactorial.
Chromosomal Disorders:
Humans have 46 chromosomes in their body cells.
44 autosomes
2 sex chromosomes

Because chromosomes carry genetic information, problems arise when there are missing or extra copies of genes, or breaks, deletions or rejoinings of chromosomes.

Karyotypes, pictures of the paired chromosomes of an individual, are important in diagnosing chromosomal disorders.
Mitochondria, the organelles in your cells that convert energy, also contain DNA.

A mitochondrial disorder, a relatively rare type of genetic disorder is caused by mutations in nonchromosomal DNA of mitochondria.

Mitochondiral DNA is unique in that it is passed solely from mother to child
Types of Genetic Testing and Screening
Carrier screening
determines whether an individual carries a copy of an altered gene for a particular recessive disease even though they do not show the trait phenotypically.

Carrier screening is often used if a particular disease is common in a couple’s ethnic background or if there is a family history of the disease.

Examples of carrier tests include those for Tay-Sachs disease or sickle cell disease.
Preimplantation Genetic Diagnosis
(PGD) is used following in vitro fertilization to diagnose a genetic disease or condition before the embryo is implanted in the uterus.

A single cell is removed from an embryo and examined for chromosome abnormalities or genetic changes.

Parents and doctors can then choose which embryos to implant.
Prenatal diagnosis
allows parents to diagnose a genetic condition in their developing fetus.

Techniques such as amniocentesis, chorionic villi sampling (CVS), and regular scheduled ultrasound allow parents to monitor the health of the growing fetus.
The most widespread type of genetic screening,
newborn screening
is used to detect genetic or metabolic conditions for which early diagnosis and treatment are available.

State tests for newborns typically screen anywhere from 4 to over 30 genetic or metabolic disorders.

Testing protocol and mandates vary from state to state.
The goal of newborn screening is to identify affected newborns quickly in order to provide quick treatment and care.
The State of Indiana requires all newborns to be tested for 45 disorders and have 2 different hearing tests!
Use the Internet to investigate the following genetic disorders.
Duchenne Muscular Dystrophy
Cystic Fibrosis
Huntington’s Disease
Down Syndrome
Leber hereditary optic neuropathy
Alzheimer’s Disease

Add these to the notes you took earlier as "examples".
Create a small pedigree for the family in the video which shows how the disease was passed from parent to offspring.
Full transcript