Subscribe Now

By entering these details you are signing up to receive our newsletter.

Mike Klein of Genomenon

Mike Klein of Genomenon

With a wealth of experience in building and running information technology companies, Mike Klein brought his expertise into the rare disease world and in particular genomic medicine, when he joined Genomenon as CEO. He talks to RARE Revolution about the impact technology is having on diagnosing rare diseases and contributing to drug development, and about the exciting potential that lays ahead

​​CEO Series: meeting the beating hearts behind the RARE brands

Mike Klein of Genomenon


What made you want to move into the wide world of rare disease and genetics, and then specifically Genomenon, and what did that journey look like?

Over the last 25 years, I have started and run a handful of software and IT companies.  After I sold my last company, I was approached by the founders of Genomenon to lead the company as it was preparing to go to market with its first product. I was inspired by what Genomenon was doing in the field of genomics and the company’s mission in diagnosing and finding cures for disease, particularly rare disease.

Genomenon is the creator of the Mastermind Genomic Search Engine, which searches for and identifies all the genomic research related to any specific disease or set of symptoms.  Mastermind covers the entire span of diseases, from rare diseases to inherited conditions to cancer. We have found our software often being used for making diagnosis and treatment decisions around patients suffering from rare diseases. Users like Rady Children’s Institute, Versiti, and Rare Genomics Institute have diagnosed previously unsolvable patient cases using Mastermind.

We also work with pharmaceutical companies that are developing new drugs for rare diseases to find disease-causing mutations (or variants) and guide candidate selection criteria for clinical trials. These pharma partners challenged us to develop a comprehensive database of the genomic drivers behind the rare diseases they were focused on—80% of which are genetically driven.

Several recent scientific studies have demonstrated that a thorough understanding of the genetic drivers of a disease and the drug pathway doubles the success rate for getting FDA approval of a drug.  We deliver the needed genomic landscape of rare diseases, backed by the evidence from the medical literature, to pharma companies to increase their drug success rate.

We’ve also worked with rare disease foundations to kick-start the research around their disease by providing researchers with a genomic landscape of their disease, which is continuously updated as new discoveries are published. 


What do you anticipate will be the biggest challenges and opportunities for your organisation in the next five years?

​We’ve built the technology to interpret the entire human genome within the next five years, which is a huge and previously impossible task. With our insight into the broad expanse of medical knowledge, we can interpret what every gene and every variant means in the context of every rare disease. By putting this information at the fingertips of clinicians, we make rapid rare disease diagnosis both possible and practical. In the hands of researchers, we make it possible to understand the molecular drivers of these rare diseases for target identification and drug development. 


What is your proudest moment in your career thus far?

​With respect to Genomenon, our proudest moments are when we hear from clinicians how they diagnosed a patient using Mastermind that would have otherwise remained undiagnosed.  We make it easy for clinicians to become experts in finding needles in a haystack. When it comes to diagnosing rare diseases, every genetic mutation is a needle buried by a mound of data and medical publications that are hard to organise and search. Mastermind finds every needle in every haystack.

Knowing that connecting a patient’s mutations to even a single research paper can make the difference in saving a life gives us the motivation to keep doing what we do best.


What and who are your personal and professional inspirations and why?

After building four other companies, I’m incredibly motivated to build a company that makes a difference in this world.  We have an extraordinary opportunity at Genomenon to play a key role in saving babies and curing cancer by organising the world’s medical knowledge in a way that makes an impact. We’re on a mission to do just that.


What advice would you give someone considering working in the rare disease and genomic space?

Genomics will revolutionise medicine in a way we’ve never seen before. Twenty years from now, we will be amazed at how much we’ve learned and the impact genomic medicine has had over that timeframe. There couldn’t be a more exciting place to invest your career in.


Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

No-one who understands the potential of precision medicine will ever be satisfied with the pace of progress, but new discoveries are happening every day, which is very encouraging. The biggest opportunity lies in providing the widest access possible to those discoveries so they can be used to fuel treatments and cures. That’s what we have set out to do with Mastermind. 


What would you say are some of the biggest motivators for your employees?

We were pretty fired up when Rare Genomics Institute (RGI) shared a case where an undiagnosed patient had their whole exome sequenced and analysed by a leading genetics laboratory. The lab was unable to find evidence on any clinically relevant genetic mutations that could provide a diagnosis. When Dr. Lipika Ray, a computational geneticist at RGI, re-analysed the patient’s DNA using Mastermind, she found a single research report that matched the patient’s DNA data. This finding led to the patient diagnosis and ended their long diagnostic odyssey.

It’s stories like these that get everyone on our team excited about the work we do every day and keep us looking forward to how we can change the world—one patient at a time.  

Genomenon team meeting
Left to right; Steve Schwartz, Mike Klein, Mark J Kiel and Candace Chapman


What are the toughest parts of being a CEO, and conversely what are the most rewarding? 

CEOs usually don’t get to make the easy decisions. Easy decisions can be delegated. The tough decisions come to the CEO to make—often when there is conflicting information and no clear answer.  We have to make decisions with input from the team, but often in the face of several options and no consensus around a single clear answer.

The most rewarding part of being a CEO is seeing a team accomplish amazing things that truly make a difference in the world.


What would be your one wish for Genomenon for the year ahead?

​To get our tools in every clinician’s and researcher’s hands so we can have a bigger impact on rare disease diagnosis and drug development.


If you weren’t CEO of Genomenon what was Plan B?  What did your 10-year-old self-want to do as a job?

When I was younger, I wanted to be an inventor and an entrepreneur.  I’ve always been fascinated with creating new products and technologies and getting broad market adoption. If I wasn’t at Genomenon, I suppose I’d be running another company, although probably not as exciting as Genomenon or as impactful on people’s lives.

To find out more about the work of Genomenon please visit

Skip to content