genetic testing and treatment Flashcards
A service that helps people understand how their genes may affect their health or their family’s health.
genetic counseling
What do genetic counselors explain to families?
They explain inheritance patterns, disease risks and symptoms, tests and treatments for medical conditions.
How do genetic counselors assist healthcare professionals?
They interpret genetic tests and help healthcare providers include genetic information in patient care.
What are two common types of genetic counseling?
Prenatal counseling: Helping expectant families understand genetic risks for their baby.
Counseling families coping with a specific disease.
What is the main goal of genetic counseling?
To make genetic information easier to understand and use for better health decisions.
who are genetic testing performed on and why
Before birth and on newborns: To check for specific genetic diseases.
Children: To help diagnose conditions.
Adults: To diagnose diseases or see if they carry genes for conditions they could pass to their kids.
Human remains: For identifying people or studying genetics after death.
A test done in a lab to examine the genes and chromosomes of an early embryo to detect issues before implantation.
preimplantation genetic diagnosis (PGD)
Detects small deletions and copy number variants in chromosomes, mostly used for children.
chromosomal microarray analysis
Who regulates some genetic tests to ensure accuracy?
The Clinical Laboratory Improvement Amendments (CLIA).
They may provide inaccurate, inappropriate, or incomplete information about traits like athletic ability and dietary habits.
consumer genetic tests
it provide information on how individuals metabolize certain drugs
pharmacogenetic and pharmacogenomic test
Gene Therapy vs. Gene Editing
Gene therapy
- adds a new gene to help fix a problem.
- introduces genes nonspecifically
Gene editing
- is more precise—it can add, remove, or replace a gene. (at specific loci)
Other Treatments for Genetic Diseases
Enzyme replacement therapy: Adds missing enzymes.
Substrate reduction therapy: Lowers the amount of harmful substances the body makes.
Pharmacological chaperone therapy: Helps proteins fold and work properly.
Types of Gene Therapy
Germline gene therapy: Changes genes in eggs, sperm, or embryos, affecting future generations. (Not done in humans.)
Somatic gene therapy: Changes genes in regular body cells and doesn’t affect offspring.
Where Gene Therapy Happens
Ex vivo: Genes are added to cells outside the body, and these cells are then put back into the body.
In vivo: Genes are delivered directly into the body.
How Genes Are Delivered in Gene Therapy
Vectors, like viruses, carry therapeutic genes to the cells.
Sometimes the new gene becomes part of a chromosome or stays as a small circle of DNA (episome).
Why are stem or progenitor cells targeted in some gene therapies?
Because they can divide and move to where they’re needed, making them ideal targets for long-lasting effects.
CRISPR-Cas9 in diagnosis
Scientists can use genome editing to create animal models that have human mutations
[mimic human genetic mutations. This helps them study diseases and test treatments.]
CRISPR-Cas9 in treatments
can correct the beta globin mutation behind sickle cell disease in induced pluripotent stem cell–
derived red blood cell precursors, or it can reactivate fetal hemoglobin genes.
[It can also turn on genes for fetal hemoglobin (a type of hemoglobin made before birth), which can compensate for the defective adult hemoglobin.]
reasons to seek genetic counseling
- Family history of abnormal chromosomes
- Elevated risk of single-gene disease
- Family history of complex disease
- Family history of cancer
genetic counselling sessions
- Family history
- Pedigree construction
- Information provided on specific
diseases, modes of inheritance, tests to identify at-risk family members - Testing arranged, discussion of results and treatments
- Links to support groups, appropriate services, clinical trials
- Follow-up contact
a health care professional with a master’s degree who can help patients and their families understand the inheritance pattern of a specific medical condition, evaluate risk and navigate the path of genetic testing.
Genetic counselor
who coined the term “genetic counseling”
Sheldon Reed
where did the first class of specially trained genetic counselors graduated from
Sarah Lawrence College
