THE GENOMICS ERA:

THE FUTURE OF GENETICS IN

MEDICINE
ST. GEORGE’S, UNIVERSITY OF
LONDON

WEEK 1 DNA, THE CODE OF LIFE, AND THE HUMAN GENOME

NORMAL GENETIC VARIATION

Genetic variation. We are all, as humans, very similar. Similar enough to be

recognisable as humans. Much more similar than members of many other species
are to each other. But still, we're all different. Different hair, different skin, different
abilities, different likes and dislikes. So different as to be unique.

Even identical twins who originate from the same fertilised egg are now thought
not to be as genetically similar as previously thought. In fact, no two individuals are
exactly the same genomically. Why? Because of genetic variation. Genetic variation
is a term used to describe the differences in the DNA sequence in each of our
genomes.

Although there are many different changes to the genetic architecture which drive
variation, the commonest type of genetic variation is what we call a single
nucleotide polymorphism, or a SNP. A SNP is the substitution of a single base or
nucleotide with another base or nucleotide. They occur throughout the genome, on
average about every 300 bases.

And many SNPs are seen frequently within the general population. As technology
and our understanding of the genome improves, we're beginning to understand the
importance of SNPs, although we still have a lot to learn. For instance, we know
that genetic variation contributes to the evolution of species.

Favourable characteristics are selected for, survive, and are passed on. This is what
we call natural selection. In addition, we now know that some SNPs can predispose
to the development of disease, whereas others can protect against disease. When
the full set of detrimental and protective SNPs for a given disease are understood,
we will be in a position to offer individuals SNP profiling to more accurately
determine their risks for developing a given illness.

FutureLearn 1
We are also beginning to understand that the combination of SNPs that an
individual has will determine how they respond to some medicines, such as
warfarin. We will talk much more about this in week four. But ultimately, we are still
far more alike than we are different. If visitors from another planet landed on Earth,
they would have a hard time telling us all apart.

FutureLearn 2