Skip to 0 minutes and 9 secondsWelcome to week one of this course on Clinical

Skip to 0 minutes and 11 secondsBioinformatics: Unlocking Genomics in Healthcare. We've now entered the era of clinical genomics. No longer are we studying single genes for genetic conditions in series in a slow and laborious manner. But with the advent of genomic sequencing technologies, we can sequence many genes in parallel. This is particularly useful where a genetic change in any one of a number of genes could lead to that particular patient phenotype. Therefore, the diagnostic odyssey that some patients have journeyed along with particularly rare genetic conditions is coming to an end, and there's light at the end of the tunnel.

Skip to 0 minutes and 42 secondsWithin the UK, there are 11 genomic medicine centres recruiting patients to the 100,000 Genomes Project set up by Genomics England to sequence the entire genomes from a 100,000 patients. This project aims to bring real patient benefit and enter the era of personalised medicine by providing diagnoses, prognoses, and directing treatment where applicable according to an individual's genome sequence. Next generation sequencing approaches are generating huge data sets several gigabytes in magnitude which requires careful analysis by clinical scientists before the final result is returned to the clinician. Bioinformaticians are critical in this process and piece back all the short reads of sequence data back together to determine where variants are arising which might explain the patient's phenotype.

Skip to 1 minute and 27 secondsIn this first week of the course, you'll learn more about what we mean by clinical genomics and how genomic sequencing technologies are transforming patient care, particularly for patients with rare diseases. We will delve into the world of a clinical bioinformatician to understand their role in the patient's journey, what is challenging, why they enjoy it, and how they feel they're making a difference in health care. By the end of this week, you will understand where clinical bioinformatics fits within genomic medicine, and we hope you enjoy learning about this important new discipline.

Welcome to Week 1

Welcome to Clinical Bioinformatics: Unlocking Genomics in Healthcare from University of Manchester. This course has been created with help and support from Central Manchester University Hospitals and Manchester Centre for Genomic Medicine.

This course will illustrate how the discipline of clinical bioinformatics provides an important bridge between the cutting edge science and the delivery of genomic medicine in clinical practice. From the video, you will see the great interest1, 2 there has been in this exciting area of clinical genomics with the creation of 11 genomic medicine centres in England. In actual fact, only recently, this has increased to 13 centres 3 which highlights the ever-developing nature of this area of healthcare. We hope through the activities throughout the course that the fundamental role of a clinical bioinformatician in realising this genomic revolution will truly be brought to life.

Who is the course for?

This course has been designed for healthcare professionals and will therefore assume some degree of prior knowledge and uses some scientific language. However, we will endeavour to provide definitions of terms and acronyms where they appear in the course for those who don’t have this background. We welcome all learners because we hope to have a wide and diverse set of perspectives represented in the discussion activities in the course.

This week’s learning

You will be able to complete the following at the end of this week:

  1. Describe the wider issues affected by Genomic Medicine and Bioinformatics.
  2. Explain the importance of bioinformatics in contemporary health care.
  3. Describe the impact on bioinformatics on ending the patients diagnostic odyssey.
  4. Define the challenges and opportunities facing bioinformaticians in clinical practice.

Learning with FutureLearn

If this is your first time learning with FutureLearn, you may like to watch this short video explaining how everything works here.

Learning from conversations is an important part of the FutureLearn approach. You will learn from discussions with other people taking part in the course, by reading their comments and responding with your own thoughts, which you can do on nearly all steps. On some steps there will be a more structured discussion.

You might like to read 6 tips and tools for social learning on FutureLearn to help you get the most out the platform’s social learning features.

In some parts of the course you will be asked to participate in discussions about subjects which could be sensitive or controversial, or you may be encouraged to draw upon and perhaps share personal opinions or experiences. We would politely request that you observe the FutureLearn Code of Conduct throughout the course, and remain respectful of other learners in your comments.

If you are drawing on personal experience, please only share your thoughts if you are comfortable doing so. Please remember that patient confidentiality means that you should not disclose any information that could identify any of your patients.

A certificate is available on this course

When you feel you are happy with the material and ideas covered in a step, please ‘Mark as complete’. You can then either choose ‘Next’ to move on to the next step, or return to the week by choosing the ‘To do’ tab at the top of each page. You can always come back to a step even after the end of the course.

If you complete the majority of the steps in this course and every test, you will be eligible to purchase a Statement of Participation, which comes in the form of a digital and printed certificate. For more information on purchasing a statement or certificate please go to this page here.


  1. “Genomes project produces first diagnosis of rare diseases” by Press Association in The Guardian on 11th March 2015

  2. “PM: genome project will transform cancer care” by Ian Sample found in The Guardian 1st August 2014

  3. There are now thirteen Genomic Medicine Centres. The two new centres recently added to the eleven mentioned in the video are:

  • West of England NHS Genomic Medicine Centre (led by University Hospitals Bristol NHS Foundation Trust and includes Gloucestershire Hospitals NHS Foundation Trust, Great Western Hospitals NHS Foundation Trust, North Bristol NHS Trust, Royal United Hospital Bath NHS Trust)

  • Yorkshire and the Humber NHS Genomic Medicine Centre (led by Sheffield Teaching Hospitals NHS Foundation Trust and includes Sheffield Teaching Hospitals NHS Foundation Trust and Leeds Teaching Hospitals NHS Trust) For more info go to NHS Genomic Medicine Centres

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Clinical Bioinformatics: Unlocking Genomics in Healthcare

The University of Manchester