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Last updated: May 22, 2018

Gathering the expertise for genomic research: A multidisciplinary approach

Key Considerations
  • A clinical genomics research involves individuals from many backgrounds and roles – consultation with experts at the planning stage is vital
  • Coordination and project oversight can improve the outcomes and success of a study
  • Experts may include, but are not limited to:
    • Technology experts (sequencing providers and laboratory science)
    • Data experts (data scientists and bioinformaticians)
    • Clinical experts (medical specialists, genetic counsellors, pathologists, geneticist, relevant specialists in the area of interest)
    • Project coordinator

Genomic research (and clinical practice) requires a multidisciplinary team, including people with expertise in sequencing technologies, data science (bioinformaticians), and clinical genomics (pathologists, clinical geneticists, clinical scientists and genetic counsellors). Coordination across each of these fields can determine the success of genomic research efforts. 

Technology experts: Experimental design and planning

Due to the complexity of genomic technologies and the genome itself, designing a robust and cost-effective study requires input and consultation with a range of experts. Even biomedical researchers with significant amounts of genomics experience benefit from talking to bioinformaticians and sequencing providers to refine their experimental design. 

There are many genomic sequencing technologies. They vary in cost, complexity and coverage of the genome. There are also many different approaches to data analysis, depending on the research question. Working with sequencing providers and bioinformaticians in the early stages of research can help to refine the objectives and the best method to get this information within the required timeframe and budget. Different sequencing providers will specialise in particular technologies and have quality controls and analysis pipelines already in place.

For experimental advice, contact pathology services for your hospital or relevant local genomics facility e.g. AGRFGenome.OneKinghorn Centre for Clinical GenomicsRamaciotti Centre for Genomics

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Data experts: Bioinformatics and genomic filtering

Bioinformatics is the science of collecting and analysing complex biological data by incorporating aspects of biology, computer science and mathematics. Bioinformatics moved into the mainstream when rapidly expanding computing power meant that IT and data science expertise could be leveraged in biological fields with complex and large datasets.

The richness of genomic data is one of the things that makes genomic research so powerful but also presents challenges that bioinformaticians are uniquely qualified to address. The raw data produced by sequencing technologies is not immediately usable. Bioinformaticians use tools and algorithms to do vital quality control, reconstruct the genome by mapping reads to a reference genome, identifying variants, and presenting genomic data in a way that it may be understood.

To find a bioinformatician or data scientist that may be able to help with your research contact Bioplatforms Australia.

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Clinical experts: Genomic analysis and connecting phenotypes

Clinical scientists, geneticists and pathologists may be responsible for reviewing the evidence that a variant(s) is connected to a phenotype being investigated and classifying its pathogenicity. This analysis and interpretation requires an understanding of the individual, the features and progression of their condition, and their family history. This process also requires an understanding of technical limitations, the type of variant and its expected effect on protein or regulatory function.

While there are international efforts to bring together the many sources of information into online databases that assist with this analysis, as there are currently no gold standard databases or sources. Each database has a different focus and their interpretations will depend on the research methodology and variants found.

Clinical expert review committee: Expert committees are established in some areas to enable review of evidence and provide a forum for questions relating to management of research genomics findings. The NSW Health State Biobank Consent Tool provides examples of expert clinical consultation around results.

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Genetic counselling

Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions [1]. Genetic counsellors are health professionals who have trained to a postgraduate level and provide non-directive information and education around genetic and genomic testing and interpretation of results. Geneticists (medical specialists with clinical genetics training) and other health professionals (with relevant training and experience) can provide genetic counselling.

Genetic counselling can play a key clinical role in genomic research – particularly if results are being returned to participants. This can help individuals and families understand genomic testing, results, implications and make decisions that feel right for them, including providing informed consent, disclosing results and personal genomic risk. They can also advise on study methodologies with appropriate patient-participant interaction, including consent and whether and how results are returned.

If you require a local genetic specialist clinician or clinician scientist, look up genetic services on Centre for Genetics Education or contact the genetic service or pathology laboratory within your hospital to find a clinical expert review committee.

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Project manager

Multidisciplinary studies require appropriate oversight and management. This is especially true for genomic research as it often involves complex processes, multiple organisations and a high level of resourcing.

Engaging a project manager or using project management tools and techniques can help to produce high quality research, on time and within budget. This can also prevent misconduct and support functional team relationships.

Project managers and tools can help researchers plan, track, manage and evaluate the progress, as well as identify and mitigate problems early. Project managers are usually the first point of contact for all team members and have an overarching view of all the elements of the project.

Speak with your host organisation to find out how they can help you with advice, resources or tools for project management. For advise on reporting and audit requirements contact your host organisation research office.


This is discussed further in  - Project design and preparation.

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 Other experts

Depending on the complexity and nature of the study it might also be pertinent to consult with other experts or specialists such as ethicists, regulatory or governance experts or representatives from the community (e.g. Aboriginal and Torres Strait Islanders representatives).

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[1] Frequently asked questions. (2018) Human Genetics Society of Australasia (Australasian Society of Genetic Councellors) https://www.hgsa.org.au/asgc/frequently-asked-questions