Associate Professor Kristine Barlow-Stewart, Director, Centre for Genetics Education
In a stimulating interview, Associate Professor Kristine Barlow-Stewart, Director, elucidates the Centre’s approach to rare genetic conditions, the support it offers families and individuals affected by those conditions and the importance of teaching science to youngsters
As an introduction, can you describe what led to the formation of the Centre for Genetics Education (CGE)? How does your position help to support its founding objectives?
In 1982, genetic counseling did not exist as a profession in Australia, and our knowledge of genetics was much more limited than it is today. However, for most rare conditions that were being diagnosed, the problems we face now are still the same: isolation, a long journey to diagnosis and lack of information. I became passionate about providing information for families affected by rare conditions, putting them in touch with others in the same situation and providing appropriate genetics services.
The importance of genetics education – raising awareness of the availability of genetic counseling for families and the professionals who cared for them – was a major feature of the report provided to the New South Wales (NSW) State Government in 1988, which resulted in funding of the NSW Genetics Service. At that time, I had also independently achieved external funding to support the production of a pamphlet about genetic counseling and was conducting a limited promotional campaign. The confluence of these circumstances led me to become Director of the new NSW Genetic Education Program in 1989, and in 1990 the Program was established in Northern Sydney Health at Royal North Shore Hospital alongside the Department of Health Promotion and Education where it remains today.
The vision of the NSW Genetics Service is that through its specialist knowledge and expertise, the incidence of disease will be decreased, the onset of disease will be delayed and the impact of disease will be lessened. By pursuing this vision, the Service is also working towards considerable savings for the NSW Government and community, and increased prosperity in the region through a healthier community. Within this context, the mission of CGE is to promote awareness, understanding, knowledge, and peer and professional support to address the impact of genetic conditions and develop genetic technologies for individuals and society. As a genetic counselor, these priorities underpin my professional role.
What is genetic counseling?
Genetic counseling is available to families and individuals that have concerns about a genetic condition in their family. It provides information about: the conditions which run in the family and their impact; supportive counseling regarding the diagnosis and risk for a genetic condition in the family; diagnostic, carrier, predictive and pre-symptomatic genetic testing on the basis of informed consent and, where appropriate, management strategies; and referral to community resources, including support groups. The health professional team that provides genetic counseling may consist of clinical geneticists or other medical specialists, genetic counselors and social workers who work together to provide information and supportive counseling so that families may be better able to understand, and adjust to, the diagnosis of a genetic condition. Genetic counseling is provided as part of a comprehensive genetics service whose elements include clinical, laboratory and educational resources. The availability of genetic counselling services varies throughout Australia and New Zealand.
The Centre supports school education in a number of different ways. Could you provide some case studies of your attempt to improve the professional development and resources available to teachers?
The Centre has developed resources for use in the classroom and ran workshops to support their use from 1995-2003. Attended by 1,232 high school science teachers, over 80 per cent responded that they used or planned to use the resources. Most popular were clinical scenarios and ethical discussion guidelines to illustrate the personal and societal impact of genetics technologies. In consultation with teachers, resources were developed to match the science curriculum in primary, junior high and senior high schools.
Unless it is required in the curriculum, genetics is unlikely to be taught. Importantly, teaching about genetics and genomics is essential at primary and junior high school levels so that those who do not choose to major in science at senior high school still have a basic knowledge. This will be essential as they will inevitably be faced with decisions about utilising genetic and genomic technologies in their lifetime.
Students must be equipped with the knowledge, skills and tools needed to be able to evolve with the dynamic environment. Therefore it is important that interest is fostered from an early age in schools by actively engaging students and introducing them to new concepts. Given that the future of many scientific pursuits is very much dependent on advances in genetics, students must be aware of the related fundamental concepts and issues.
How do you transfer the excitement surrounding discoveries in genetics to students?
Students will be engaged if their teachers are passionate and excited about their subject. It is also essential to link the subject to their lives or the real world, emphasising and demonstrating that their understanding will impact on their future. I find that telling stories is one of the best ways to teach.
A number of ethical concerns remain in genetic analysis regarding the use of animal models or the alteration of the human genome. What benefit can they provide and does this outweigh the cost?
The understanding of how a change in a gene, genes or the regulation of genes impacts on health and growth underpins the development of treatments including drugs. However, proving that a drug for human use is efficacious and will not cause unacceptable side-effects requires rigorous testing in both animals and humans. In an ideal world, alleviating harm in a human should not outweigh harm to animals, but realistically, that is not always the case. It is therefore beholden upon scientists working with animals that every effort should be made to absolutely minimise harm or suffering and that alternative methods be sought to avoid animal involvement. Alteration to the human genome (as in gene therapy) should only involve an individual’s somatic cells so that the change is not passed on to future generations, thereby avoiding unexpected impact and costs.
How can your approach to genetics education and the study of science in general help to support NSW industries in the future?
To achieve its mission, the Centre endeavours to: provide current and relevant genetics information for the community and professionals; provide information about the availability and appropriate use of genetics services; foster partnerships with health, welfare, education and other professional groups; research the impact of genetics technologies on individuals, families and society; and implement continuing quality assurance measures to ensure optimal service provision. It is hoped that by promoting an understanding of genetics and genomics, the environmental interactions that occur with our genes and their impact on our health and behavior will have a far-reaching impact on how people in NSW live, work and interact with their environment.
We aim to ensure that the workplace is safe for those with a genetic susceptibility to health problems from dust exposure (known as alpha 1-antitrypsin deficiency), for example. Understanding environmental triggers may influence workplace safety to limit adverse exposures or promote healthy living. It is essential, however, that people are not penalised by their genetics.
Why are support groups across NSW so fundamental to your overall mission? How do you work to improve the service they provide?
Support groups supply those affected with information about the condition and community resources, as well as an understanding and empathic ear. The Centre provides contact details for over 200 conditions for which there are genetic support groups in Australia. There are also a number of ‘umbrella’ organisations for genetic support groups that provide support and information for those affected by a condition so rare that there is no specific support group; for example, the Association of Genetic Support of Australasia. CGE aids the work of support groups, promoting their events and working with them on request to develop their information.
Evidence is emerging to support the idea that Alzheimer’s disease is the ‘diabetes of the brain’. How are genetic tools revealing other links between genetic disorders?
The connection between poor diet and Alzheimer’s disease is becoming more convincing, as summarised in a recent cover story in New Scientist entitled ‘Food for Thought: What You Eat May Be Killing Your Brain’. Professor Suzanne Delamonte, a neuropathologist at Brown University has provided accumulating evidence that a lack of insulin is involved in the characteristic build-up of beta amyloid plaques found in the brains of people with the condition. This provides a link between the basic biological function in two seemingly independent conditions. Similarly, the understanding of our genetics has evolved from the one gene-one protein concept to one gene and many proteins. It is now clear that genes do not operate in isolation, but within a network of other genes, encompassing the regulatory DNA and RNA and the cellular environment in which they are expressed. It may explain the genetic variability – why it is that people with the same genetic makeup express the condition differently. For example, people who have both copies of the common mutation (delF508) in their cystic fibrosis transmembrane conductance regulator (CFTR) gene – which causes cystic fibrosis – do not uniformly express the condition in the same way.
In your opinion, what has been the greatest discovery in the study of genetic disorders over the past decade? How do you envision the next 10 years?
In 2003, Dr Francis Collins noted that the mapping of the human genome heralded a new era in genetic research. The stage had been set to further explore and elucidate the structure and function of genomes, to translate genome-based knowledge into health benefits and to promote the use of genomics to maximise benefits and minimise harm. However, these grand challenges depended on understanding more than just the 1-2 per cent of the human genome containing the protein-encoding regions delineated in the Human Genome Project.
The National Human Genome Research Institute (NHGRI) launched a public research consortium named the ENCyclopedia Of DNA Elements (ENCODE) in September 2003 to carry out an investigation identifying all functional elements in the human genome sequence. Just a few weeks ago, the simultaneous publication of 30 papers in Nature, Genome Research and Genome Biology described an interpretation of function, albeit still perfunctory, to about 80 per cent of the genome, including more than 70,000 ‘promoter’ regions (controlling expression of nearby genes) and nearly 400,000 ‘enhancer’ regions that regulate expression of distant genes. This is an exciting development that will enable greater elucidation of our understanding over the next decade.