Re: Support for genetics/pharmacogenetics

Thanks, Mark.
Let's discuss deeply on this. Every one's feedback is need here.

Marc

On 10 June 2015 at 20:51, Mark Woon <markwoon@gmail.com> wrote:

> Hi,
>
> I'd would love to see support for genetics and pharmacogenetics in the
> healthcare schema.
>
> For example, there is no way to even provide metadata for genetics-based
> dosing guidelines in MedicalGuideline right now.  An example of such a
> guideline can be found here:
> https://www.pharmgkb.org/guideline/PA166104997
>
> I would like to propose the addition of these types:
>
>
>    - MedicalEntity
>       - GeneticSequence
>          - Gene
>          - Genome
>          - Variant
>          - VariantCollection
>             - Diplotype
>             - Haplotype
>             - Genotype
>
>
> The VariantCollection level is not really necessary, but all it's children
> contains a collection of Variants.
>
> I can go into more detail on exactly what I think these types should
> be/contain, but wanted to make sure there's consensus on the types that
> should be added.
>
>
> Thanks,
> -Mark
>