Hello. In this lecture, I’d like to give you an introduction to the scope of our medical genetics course.
We’ll begin by looking at genetic medicine prior to the 21st century. Previously, we did not have nearly as much
technology available. I’m sure you’re aware of that. It used to be considered detection and treatment of a few
phenotypically displayed hereditary diseases. Well now, we have a lot more technology available to us
with the sequencing of the human genome. But previously, we used techniques like prenatal and perinatal
diagnosis, which of course we still use today as well as analysis of birth defects once a child is born.
In addition to that, we will treat abnormalities that are detected during development. But again, the key here is
that they have to have a phenotypic expression. Now, in the current day of medicine, we have DNA sequencing
available to us and genetic testing. Because of these, there’s a whole new field of genomics coming into play.
In genomics, we’re now discovering what each of the pieces of the human genome are doing, what each gene does.
As you’ll recall from our molecular genetics course, we also need to consider what all the proteins do or where
they come from, so the field of proteomics has come into play. So now, with these advents and more and more
technology becoming available, we’re able to personalize healthcare. So personalized healthcare, meaning
we can do genetic testing and figure out what people’s predispositions might be. We’re able to predict or add
a little more precision to our treatment of individuals because as we learn more and more about the genome,
then we’re able to have more information and treat. Then we have the concept of previvorship.
If you have an individual who has chosen to be tested genetically for conditions, then we can possibly intervene
before that condition even shows up. So we have the potential application also of so many gene therapies
that are in play, under research as we discover more and more about the genomes. So the bottom line here
is that the advent of genomics and proteomics, we’re getting many, many more tools to utilize in medical genetics.
So the two fields go hand in hand. We’re going to be applying analysis of human genome and its products.
So in genetics today, we need to consider gene interactions, how one gene affects another gene as well as
how gene expression is controlled. You’ll recall from our molecular genetics course, there were many little proteins,
initiation factors, and transcription factors involved in the whole process of getting a gene to be expressed.
Each of those are coded for by genes. So, understanding how each of those genes interact with each other is
going to open up so much more in the field of genetic medicine. We also have different variants of each gene,
so gene variations throughout the population and gene variations between, whether you’re having maternal or
paternal inheritance of a particular disorder. In addition to that, we have environmental interactions to consider.
Epigenetics is a huge field that we’re understanding affects gene expression and of course, our medical genetics field.