Genetic Testing – What is it?

What is Genetic Testing & is it Beneficial? 1) sequencing of human DNA in order to discover genetic differences, anomalies, or mutations

2) looks at DNA to find changes that cause diseases or puts one at risk to develop a disease

3) often recommended by doctors if there is history or patter of disease

How Genetic Testing Works

1. Your doctor or genetic counselor will talk to you about the test, give all important information
2. The lab will get your DNA from the sample test
3. Sequencing tests read your DNA and look for changes in the DNA
4. Computers are used to put all of the pieces of DNA together and used to compare your DNA to all of the human body DNA
5. A team of experts will discuss and analyze the results
6. Lab will give the written results back to doctor or genetic counselor, will go in medical record if clinical test

Different Types of Genetic Tests

• Clinical Genetic Tests – tests ordered by doctor and done in lab, results become part of your medical record
  • Diagnostic Test – to find the cause of a disease or symptoms you already have
  • Presymptomatic Test – before you have the symptoms, to find if you are at risk for the future
  • Carrier Test – to find DNA variants that can cause disease if the changes in DNA are hereditary and the parents pass them on to their children
  • Prenatal Test – a test during pregnancy to see if the baby will have a disease
  • Newborn Screen – a test performed one to two days after the baby is born to see if the baby has any disease
  • Pharmacogenomics Test – to find the best medicine and dose for a person based on their DNA
• Research Genetic Tests – you volunteer to participate in a research study, results are not put on your medical record

Positive POV

• Can help determine plan of treatment
• Newborn screening
• Can help scientists develop medicines
• Compare genetic results for mutations, especially relevant in catching cancerous mutations
• Find the cause of your disease or symptoms
• See if you are at risk to develop a disease in the future
• Determine whether you could pass a disease on to your children
• Can unveil important information about health of family members

Negative POV

• The tests may not be accurate
  • Answers are probably, not certainly
  • Determines chance of getting disease
• Limited confidentiality/privacy issues
  • Testing is fairly new – no laws keeping results private
• Limited testing is available
  • Medical professionals interpret results
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  • Lab test
• • Determines who passed on what gene
• Illnesses develop from a mix of high-risk genes and environmental factors
  • Just carrying high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick
  • False sense of risk or when results are negative there is a false sense of security
• Increase fear and anxiety
  • Do not know how severe that affected gene will affect the person who carries it
  • Know you will get disease, but do not know when
• Takes time
  • Specimen are sent to labs which could take weeks to get results to a genetic counselor
• Issues with Insurance