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Advancing technologies in genetic testing | Part 3

shutterstock_272692997In Part 1 & Part 2 of our series on genetic testing we discussed common questions asked and answered, along with some of the advantages and disadvantages genetic testing has to offer. As our knowledge of genetics grows, so does does our understanding that genetics is and will continue to be the future of medicine. Part 3 delves into the newest genetic testing technologies that allow us to explore the vast world of the human genetics.

What is gene therapy?

Gene therapy refers to a series of experimental therapies aimed at using genetic manipulation of the DNA in our cells to treat disease.  In most cases it would involve inserting new copies of a gene into cells to replace mutated or missing copies of a gene.  In other cases, it might involve inserting new genes aimed at targeting a specific disease or turning off a gene that is functioning improperly.  At present, this is highly experimental, very risky and has not been proven to be effective in any condition.

What are these new DNA sequencing tools?

The technology used in genetic testing has evolved dramatically in the past decade.  PCR (polymerase chain reaction) is a process where specific DNA sequences can be investigated and amplified – this requires knowing the DNA sequence you are looking for.  The basis of most genetic testing involves this PCR method.

Sequencing allows us to actually look at the DNA sequence, essentially seeing the entire DNA code.  In the past it has been a time consuming and expensive process called Sanger Sequencing.  A new set of technologies called Next Generation DNA Sequencing uses semi-conductors to streamline the process by using “Chips” which allow for simultaneous processing of many samples.  Computers are then used to interpret the massive amounts of data generated to allow for interpretation of these results.  It is a promising new technology that is still developing.  Studies are still being performed to see if it is as accurate as traditional techniques like Sanger Sequencing and PCR.

What is whole-genome testing?

Whole genome testing refers to an idea that the entire DNA sequence (all of our genes) might be scanned to look for genetic mutations.  At present, we are able to sequence a person’s entire genome – meaning we can obtain the specific DNA sequences.  Unfortunately, interpreting this information is extremely difficult.  Only a small percentage of genes are understood well and the majority of our DNA is still a mystery to us.  This field is expanding rapidly and new genetic tests and associations are becoming rapidly available.

GENETIC TESTING SERIES

Part 1 Common Questions Asked & Answered

Part 2 The Advantages & Disadvantages

Part 3 Advancing Technologies

Part 4 Inherent Disease



Dr. Thomas Molinaro, MD, MSCE, FACOG

Physician Partner, Reproductive Medicine Associates of New Jersey Eatontown, NJ

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