Echapters
Genes for Life
Introduction to human genetics
Martin Delatycki & Grant Blashki
“No field of medicine has changed in so dramatic a fashion as has been the case with human genetics. It is only 40 years ago this year that the first human gene was isolated. Back then, identifying a single chemical in the human genome took days. Now it is possible to sequence the three billion chemicals in the genome in a similar time …”
The lottery of genetics
Laura Beaton
“It’s Saturday morning, which means pancakes. After a long drive out to the quiet suburbs of regional Victoria, I arrive too late for the pancakes – but I am where I need to be. Down a wide street, past an oval with cricketers, is the home of Sandra and her family …”
The simple case for germline
gene editing
Christopher Gyngell & Julian Savulescu
“For over three decades, scientists have had the ability to alter the genomes of other species of animals. Using viruses to alter DNA sequences, scientists were able to create a range of transgenic animals – with altered physical, cognitive and social characteristics …”
Common genetic conditions
Tiong Yang Tan
“There are many different ways that faults in the genetic code can occur. Alterations to the genetic code can arise at any level and can affect gene expression leading to human disease …”
Common medical conditions
in which genes play a role
Brian T. Wilson
“Genes influence every aspect of a person’s health, from the ability to resist infection with a pathogen, to how medication is metabolised, to mental health and behaviour. Diseases have historically been defined by what a clinician sees, rather than the root cause of the pathology …”
Genomics in general practice
Grant Blashki & Jon Emery
“In recent decades, there has been an extraordinary technological revolution underway in which the very building blocks of life, our genetic codes, are increasingly well understood and even manipulated by rapidly advancing scientific techniques …”
Genetic screening
Martin Delatycki
“The explosion of knowledge in relation to the genetic basis of multiple conditions means that screening for the risk of preventable disease as well as for the risk of having a child with a genetic condition is increasingly possible. Genetic screening is defined as a systematic attempt to identify and counsel as many people at genetic risk in a population as possible, whether or not they have a genetic family history …”
Prenatal testing
Susan Walker & Lisa Hui
“In the course of a generation, the information available to families regarding the health and future of their unborn children has been transformed. In the era of our parents and grand – parents, even the number of babies to be born was a mystery …”
Personal genomic testing
Sylvia A. Metcalfe
“Traditionally, genetic tests have been firmly placed within a clinical context – clinicians order tests to gather information to help or confirm diagnosis of a condition in a person who is showing symptoms, to predict whether a person with a family history will develop a late-onset condition when the test results can be accurately interpreted …”
Gene therapy – personalised
medicine in action
Marguerite V. Evans-Galea
“We all begin life as a single cell that divides and develops until we are a fully grown human being. Inside this cell, our DNA carries the complete set of instructions for this to happen. However, if your DNA sequence harbours an alteration – even a small, seemingly insignificant single-base sequence change – it can have detrimental consequences: inherited genetic disease …”
The future of genetics
Zornitza Stark & Kathryn North
“It took over 10 years and US$3 billion to sequence the first human genome. Next generation sequencing (NGS) technologies have made it possible to replicate this feat in a matter of days and at a fraction of the cost, and have led to an explosion in our understanding of the genetic determinants of health …”
