New decedents of young adult onset (HP:0011462)

[jsaliba10]

Our group of clinicians, lab directors, researchers, and biocurators from the ClinGen Pediatric Cancer Taskforce, CIViC, and Disease Ontology is looking to improve and highlight pediatric and young adult cancer variants through enhanced curation protocols.

Young Adult onset (HP:0011462) has a wide age range: between 16-40 years old. Similar to pediatric onset (HP:0410280) with 3 descendent terms, we propose adding subclasses under young adult onset. This segmentation will improve curation efforts and provide better representation and tracking of variants within the young adult population and cancer types.

Proposed age ranges were based on the information in 26812562, pediatric clinical trials capping their ages at 18 year-olds, and ages included in clinical treatment protocols of various cancer types.

Preferred term label: Early young adult onset Intermediate young adult onset Late young adult onset

Synonyms N/A

Definition (free text, please give PubMed ID)

Early young adult onset: Onset of disease at the age >16 to under 19 [16, 19) Intermediate young adult onset: Onset of disease at the age > 19 to under 25 [19, 25) Late young adult onset: Onset of disease at the age > 25 to under 40 [25, 40)

Parent term (use hpo.jax.org/app)

https://hpo.jax.org/app/browse/term/HP:0011462

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

Your nano-attribution (ORCID) https://orcid.org/0000-0003-3035-2296

[pnrobinson]

These are good suggestions. I would also suggest you might want to consider using the new GA4GH phenopacket schema if you are recording information about individual patients (https://phenopacket-schema.readthedocs.io/en/latest/). The HPO categories are intended to describe disease entities where we want to provide the general age range of onsets. I will leave this issue open for a week or so to give others a chance to comment. I will also send it to the HPO mailing list in case there are other community needs for terms like this.

[Thil87]

I would agree with this interpretation of the ages at onset, based on my recent manual literature-mining. However, my work was done before the addition of 'young adult onset', and I am interested to learn that 'juvenile onset' HP:0003621 is defined as 5-15 years old, when a number of studies interpret this term as from 13years old (https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia), to incorporate the teenage years. Fairly easy work-around as long as the actual age of onset is recorded in the demographics, in order to update the HPO term used.

[BimalChaudhari]

I thought it might be helpful to at least share the AAP and Bright Futures definitions: https://pediatrics.aappublications.org/content/140/3/e20172151

Key quote "In the guidelines for choosing pediatric experts for advisory panels, the US Department of Health and the Food and Drug Administration reference approximate age ranges for these phases of life, which consist of the following: (1) infancy, between birth and 2 years of age; (2) childhood, from 2 to 12 years of age; and (3) adolescence, from 12 to 21 years of age. Additionally, Bright Futures guidelines from the American Academy of Pediatrics identify adolescence as 11 to 21 years of age, dividing the group into early (ages 11–14 years), middle (ages 15–17 years), and late (ages 18–21 years) adolescence."

I would also comment (naively as I am not a clinical trialist) that if you the age cut off for pediatric clinical trials is 18 then shouldn't the 'early young adult' category upper limit be 18, not 19?

[azankl]

Since the exact age cut-offs are a bit arbitrary, I would include the age range into the label, e.g.: Early young adult onset (>16 to <19 years of age). Also, there is some ambiguity in the proposed age ranges by @jsaliba10, early young adult goes to <19 and intermediate young adult start at >19, so where does a 19 year old belong?

[jsaliba10]

@pnrobinson Our tagging is meant to be general as we curate evidence and tag onset from publications ranging from a single patient to a large cohorts. Often outside of published case reports, the specific age of diagnosis of each patients is not provided, but only a range is given. Tagging our evidence with the HPO onset tags is useful to our efforts in tracking, collecting, and highlighting variants. With young adult being so broad, we have observed that further segmentation would assist in tracking those variants and cancer types that present early in young adulthood vs. late, as the literature indicates their frequency is not evenly distributed across the YA age range.

[jsaliba10]

There are a numerous groups and entities that define onset ages differently. Our proposal is not to completely re-do the onset ranges currently used by the HPO, but to refine what is existing. When ages for the clinical trials are given they are not often specific, so it is difficult to determine if they set their cut off under 18, at exactly 18 or under 19.

@BimalChaudhari @azankl A mistake was made when I pasted my text as the > symbol lost its underline to designate greater than or equal to.

In text form, the corrected age ranges proposed would be:

Early young adult onset: Onset of disease at the age greater than or equal to 16 to under 19 [16, 19) Intermediate young adult onset: Onset of disease at the age greater than or equal to 19 to under 25 [19, 25) Late young adult onset: Onset of disease at the age greater than or equal to 25 to under 40 [25, 40)

This way, cases under 19 would be fall into the Early onset group, those exactly age 19 would fall into the intermediate group , and finally those age 25 would fall into the late group.

[jsaliba10]

@pnrobinson Have you and the HPO given any more thought to these term requests?

[kkrysiak]

+1

[pnrobinson]

Sorry for the delay. I am adding these terms as suggested as there were no further suggestion on the tracker. I am adding phrases like this to the comments. This term includes the full 16th year of age up to the completed 18th year og age (i.e., less than the 19th birthday). The terms will be available with the February release of HPO.