Embark on a captivating exploration, deep into your DNA, the blueprint of your life. Join us in this video as we unveil the hidden narrative embedded in your genes, through the lens of genetic testing. Get ready to delve into the Intriguing convergence of science identity and the future of personalized healthcare. First, let's discuss what the table of contents of this video will be. First we'll be looking at what is a genetic test? What are some factors associated with genetic tests? What are t
he different types of genetic tests? What are some criteria used to recommend an individual? Looking at some information from an expert in the field, as well as discussing what is consensus? First, let's discuss what is a genetic test. A genetic test involves analyzing and studying DNA by evaluating an individual's genes and chromosomes and determining if the individual has a specific condition did you know as of now, we have 77,000 tests that are being utilized globally. What are some factors a
ssociated with genetic tests? Your genes, chromosomes, and proteins are all examined during genetic testing, but evaluating the genes. We are looking at the DNA sequences, to see if you can find any mutations that may cause genetic disorders. These tests could include looking at the whole nucleotide, the DNA building block, the whole genome which is all the DNA in an individual, or multiple genes. Chromosomal genetic tests include evaluating pieces of a chromosome finding extra copies, or lookin
g at the whole chromosome to identify any causes of a condition. Protein tests look into your enzymes, and protein activities and if any of the numbers are out of the ordinary, this can indicate a cause for a genetic disorder. Now let's talk about what the different types of genetic tests that are out there. This could include molecular tests, chromosomal tests, gene expression tests, and biochemical tests. Molecular tests look into changes in the DNA, and this can be tested through a targeted s
ingle variant, Which looks at a specific variant that can be found in a gene. It is a specific variant that is identified that causes a genetic condition. For example, those who have sickle cell anemia have a mutation in their HPV Gene that causes this disorder. This test is most commonly used on family members for a specific variant, that has already been identified, and they're testing to see if it is present in the other member. Other molecular tests can include a single Gene, which looks at
one gene, a gene panel, which looks at multiple genes, and whole exome sequencing, which looks at the majority of an individual's DNA. Another type of test are chromosomal tests, as mentioned before, they analyze pieces, or the whole chromosome. For example, an extra copy of a chromosome is found, or his missing. This is referred to as trisomy for extra and monosomy, as one chromosome. Other changes can include deleted or rearranged pieces of the chromosome thus different changes to the chromoso
mes can be identified to pinpoint a genetic condition. For example, If there's an extra copy of chromosome 21 that will lead to Down syndrome. Another type of test is gene expression test, which evaluated which genes are expressed, and not expressed, on and off. These tests observing mRNA found in cells to analyze the expression, having too much or too little expression can be indicative of a genetic condition. Lastly, as mentioned before, biochemical test, analyze enzyme, and protein activity,
and if any numbers are out of the ordinary, this can be caused by a genetic disorder. What are some criteria used to recommend an individual, doctors may advise an individual to undergo genetic testing based on family history, and history of cancer in the family. Ovarian, and breast cancer free samples or seem to run in families. It is important to note however that genetic testing only provides information about the disease as a whole, other genetic factors such as your diet, how you live your
life, can contribute to genetic conditions. It is crucial to share your family history with doctors, This information could uncover inherited genetic conditions, impacting family members, and assess the risk of developing these genetic condition, and get recommendations for genetic testing. Hi, my name is Landry Nfonsam, and I am a clinical laboratory scientist in genetics, in Joseph's healthcare Hamilton. I'm also an assistant professor in the department of pathology and molecular medicine at M
cMaster University. Now there are many benefits to performing genetic testing. Most of which have had tremendous positive impact in our lives. The first benefit that I am going to address of genetic testing is early detection of disease causing mutations that can lead to early intervention. Now in the context of prenatal testing, it provides couples with informed choice on how to manage the risk of having an effected child, including making decisions about whether or not to keep the pregnancy. I
t allows Physicians to plant prenatal treatment for diseases with a genetic disorder or birth defect. For cases where treatment is not available, It allows parents of Physicians to arrange for pain management for the impending birth of an affected child. This may include psychological preparation for family members, pregnancy and delivery management, and post-natal care. In the context of testing, It helps identify individuals at risk of a genetic disorder, for example, early detection of BRCA1
or BRCA2 mutation that causes breast and ovarian cancer, permits individuals to make a choice of initiating prophylactic measures like mastectomy, or oophorectomy. Predictive testing for HTT mutations that cause Huntington's disease, allows individuals who are carriers to potentially make appropriate plans for the future, like choice of job, lifestyle plans, and later life care. For pre-implantation genetic testing, it offers carriers of pathogenic variants with who are scared to pass on the mut
ation to their offspring, a way out to be able to have healthy children. Genetic testing can be performed on embryos during IVF and only healthy embryos selected for implantation. For biochemical tests, early intervention is critical, especially for cases where decomposition episodes can be very acute, and can rapidly lead to death. For example elevated levels of phenylalanine in phenylketonuria, or elevated levels of ammonia in ornithine transcarbamylase deficiency, which are both molecules tha
t can cause brain damage. Now, there are limitations associated with genetic testing. Genetic testing doesn't always give you all the answers. There are limitations for example genetic testing can be limited by, the testing methodology, a negative result does not rule out the presence of a pathogenic mutation. Also mutations may be present in a difficult to sequence regions, and might be missed. Another limitation is that for some single analyte tests, only one sample can be analyzed at a time.
What is consensus. In this context, consensus refers to securing approval for the genetic test, known as informed consent. this involves providing individuals with sufficient information to understand the test, and underscore its voluntary nature. Only adults capable of making medical decisions, can agree to undergo the test, while for individuals or children unable to make the decisions, a parent and/or legal guardian with decision-making authority can provide consent on their behalf. Consent i
s usually acquired through a doctor and a genetic counselor. And once they agree, they are required to sign a consent form that includes information such as a type of the test how the test will be completed, such as a blood test, what the results may mean, the possibility that the results may reveal any hidden family history, and then require a signature. If you are interested in more videos like this, please subscribe to our YouTube channel, Demystifying Research. Thank you.
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