Primer on Genetic and Genomic testing

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O Stoma Mia
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Primer on Genetic and Genomic testing

Postby O Stoma Mia » Thu Jan 11, 2018 3:24 pm

NHMike wrote:Primer on genetic/genomic cancer testing. I received this link from Dana Farber this morning:

http://blog.dana-farber.org/insight/2017/12/dna-sequencing-cancer-therapy/?utm_source=newsletter&utm_medium=email&utm_content=%3E%3E%20READ%20MORE&utm_campaign=spotlight

Cancer therapy is increasingly aimed at the fundamental abnormalities within cancer cells – the genes and proteins that normally keep cell division under control, but are damaged or faulty in tumor cells. To understand which genes are abnormal, where they’re located within the genome, and how they affect cell growth, doctors and scientists use a procedure called DNA sequencing.

BTW, the Genomic Testing done is more accurately called "whole exome sequencing" but I think that most people will understand what you mean from "Genomic Testing".

One other benefit to doing testing is that researchers have more data to do research projects on various kinds of cancer in terms of incidence and demographics.

Thanks for posting the above link. I think it is becoming more and more important for us, as patients, to know the difference between genetic testing and genomic testing.

Is there a difference beween genomic and genetic testing?
https://www.cancercenter.com/community/questions-and-answers/precision-medicine/genomic-genetic-difference/

Genetic testing identifies abnormalities or predispositions we have been born with, and how these might affect our health.

Genomic testing refers to the examination of unique abnormalities or mutations that occur in the cancer. Some or all of these mutations may be driving the cancer to grow. In theory, targeting these would be a way to control the cancer. With genomic testing, we can reveal the genomic makeup of abnormalities within the cancer tissue. In other words, for some patients, more targeted precision may now be possible by identifying the genetic profile of a tumor and designing treatment options specifically for that person’s cancer.

Ref: https://wtop.com/cancer-qa/2015/01/difference-genetic-testing-vs-genomic-testing/

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juliej
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Joined: Thu Aug 05, 2010 12:59 pm

Re: Primer on Genetic and Genomic testing

Postby juliej » Thu Jan 11, 2018 7:17 pm

O Stoma Mia wrote:
NHMike wrote:Primer on genetic/genomic cancer testing. I received this link from Dana Farber this morning:

http://blog.dana-farber.org/insight/2017/12/dna-sequencing-cancer-therapy/?utm_source=newsletter&utm_medium=email&utm_content=%3E%3E%20READ%20MORE&utm_campaign=spotlight

Cancer therapy is increasingly aimed at the fundamental abnormalities within cancer cells – the genes and proteins that normally keep cell division under control, but are damaged or faulty in tumor cells. To understand which genes are abnormal, where they’re located within the genome, and how they affect cell growth, doctors and scientists use a procedure called DNA sequencing.

BTW, the Genomic Testing done is more accurately called "whole exome sequencing" but I think that most people will understand what you mean from "Genomic Testing".

One other benefit to doing testing is that researchers have more data to do research projects on various kinds of cancer in terms of incidence and demographics.

Thanks for posting the above link. I think it is becoming more and more important for us, as patients, to know the difference between genetic testing and genomic testing.

Is there a difference beween genomic and genetic testing?
https://www.cancercenter.com/community/questions-and-answers/precision-medicine/genomic-genetic-difference/

Genetic testing identifies abnormalities or predispositions we have been born with, and how these might affect our health.

Genomic testing refers to the examination of unique abnormalities or mutations that occur in the cancer. Some or all of these mutations may be driving the cancer to grow. In theory, targeting these would be a way to control the cancer. With genomic testing, we can reveal the genomic makeup of abnormalities within the cancer tissue. In other words, for some patients, more targeted precision may now be possible by identifying the genetic profile of a tumor and designing treatment options specifically for that person’s cancer.

Ref: https://wtop.com/cancer-qa/2015/01/difference-genetic-testing-vs-genomic-testing/


Thanks, O Stoma Mia and NHMike for the valuable info! :D :D :D

An easy way to remember it is

Genetics is the study of single genes and their role in the way traits or conditions are passed from one generation to the next via DNA.

Genomics describes the study of all parts of an organism's genes, called the genome. The genome is the complete set of DNA instructions, packaged into two sets of 23 chromosomes per cell, as well as gene-modifying sequences and related information.

I think of genes as "DNA recipes" that give us our particular traits and tell the cell how to make the proteins that form the body's structure.

I think of genomics as the "whole recipe book" for an individual organism or person. Human DNA was deciphered in 2003 by the Human Genome Project. The new field of bioinformatics looks for patterns in this data to better understand how diseases happen and to aid in finding treatments for those diseases.

There is also a little confusion around a term called germline mutations. These are changes that arise in inherited genes that are present in the egg or sperm and affect the offspring. BRCA1 and BRCA2 mutations in breast cancer patients are examples of germline mutations. An example in CRC are variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene which increase the risk of developing Lynch syndrome.

And there's something called somatic mutations. These are changes that arise in nongermline tissues and that are noninheritable. Somatic mutations accumulate in the cells of the body over a person's lifespan and are passed to the progeny of the mutated cell in the course of cell division.

An easy way to remember it is

Germline mutations involve sperm and egg and are inheritable.

Somatic mutations are an alteration in DNA that occurs after conception. Somatic mutations can occur in any cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.

Juliej
Stage IV, liver/lung mets 8/4/2010
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Adjuvant Xeloda 3-9/12
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NED 3/17/12 to 12/13/2017, CEA<1


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