


Do I need the Rules Toolset?

It depends on the complexity of the task:

1. You want to genotype one SNP and give an interpretation of the result. E.g. the LCT C/T-13910 SNP (single nucleotide polymorphism) for lactose intolerance.
-No, you don’t need the Rules Toolset©, the answer is simple: CC = intolerant so avoid dairy, while CT or TT = tolerant.

2. You have a panel of 6 SNPs for HLA genes related to Celiac disease risk. In the personal report you want to give an indication of the relative risk which depends on the combination of SNPs.
-In this case, again, the Rules Toolset© would not be necessary (although it would make things easier)

3. For a panel of 10-15 SNPs related to different CVD (cardiovascular disease) risk factors (e.g. lipid metabolism, inflammation, blood pressure, etc) you need to produce a personal report that interprets the results and gives recommendations on nutrition, physical activity, medication if necessary, etc, that will manage the risk factors with the aim of reducing overall CVD risk.
-The Rules Toolset© is not essential; it is possible to construct the rules and logic using Excel formulas or database queries. The Toolset however would make the process much more comfortable to manage and would likely prove to be a cost effective choice over the alternatives

4. To the CVD panel you want to include extra variables in the personal report. The recommendations will incorporate biomarker results and possibly also dietary information. You will also want to produce follow up reports as new biomarker and healthcare assessments are performed.
-Compared to case 3 we now have increased the complexity by several orders of magnitude and yes, you will need the Rules Toolset©. With spreadsheet formulas or database queries it will not even be possible to create all the formulas or queries required to deliver the whole range of personal recommendations. Without the Rules Toolset this service would be impossible

5. As high-throughput multiplexed systems begin to make it affordable to measure 100’s (soon 1,000’s) of biomarkers we start to enter the realm of incorporating metabolomics (and other “-omics”) into clinical practice and personal healthcare management. The complexity becomes seemingly unimaginable…
-Maybe, but not unmanageable. Do you need the Rules Toolset©? Yes

The Rules Toolset© was developed by a group of people who have direct experience and have lived through cases 1-4 above and are about to embark on case 5. It was developed specifically to reduce the headaches in case 3 and to be able to move on to level 4. True, you can use alternatives for case 3, you could even get some of the way in case 4, but by the time you have developed the logic, written all the formulas and put it all together you will only have completed about 10% of the task. It’s at this stage that the frustration really sets in. The first thing you need to do is produce a set of reports and validate all the logic, you will certainly find some errors in some of the formulas or queries. Since all the genes and biomarkers interact in a complex way, so will the rules and formulas. Changing one formula can affect the functioning of several other formulas, like tugging on a strand on a spider’s web moves it all in an unpredictable way. Even changing one formula will mean you have to start from scratch with your error checking and validation. Once it is up and running it will soon be time to make some changes, as new research results need to be included, adding a SNP (single nucleotide polymorphism), modifying some advice, yet another bug discovered – again you’re back to square one with error checking and validation. The spreadsheet or database query approach even where possible becomes very inefficient (and frustrating).

The Rules Toolset© was necessary to handle the complexity of case 4 but our experience told us that the most important features are in the management of the complex Rules sets once they have been built. A lot more time was spent on developing the inbuilt error checking algorithms that allow you to keep control of the models as you build them, minimising the errors and bugs in the finished report generator. Even more time was spent implementing the quality control tools, creating a self-learning system that checks, validates and logs every single output in every single report that is generated by the Rules Toolset©. This makes it possible to add a SNP, change a rule, modify some recommendations, without having to start the validation from scratch, only the changes will need to be validated.

The built in version control elements will allow you to build on previous versions, either to improve them or to create completely new products developed from existing models, without losing control, without losing the logic already developed, and without breaking the previous versions even when implementing the new version.

These many features have been specifically included in the Rules Toolset©, to give you peace of mind and allow you to concentrate on your core expertise, i.e. developing and enhancing products, rather than having to spend time solving technical issues.

The Rules Toolset© will not make creating your services easy – that would be impossible with such a complex service that you want to offer, that is your competitive advantage, if it was easy anyone could do it. What the Rules Toolset does do though is make such a service possible – there is no alternative on the market that can handle the generation of apparently simple personal reports from such a mass of complex interactions between genes, biomarkers, nutrition, etc