Orion Buske, CEO of Phenotypes, gave a presentation at the CORD Spring Conference in June 2022 about using patient phenotypes to drive genomic diagnostics for rare diseases. He explained that while genome sequencing can diagnose thousands of genetic conditions at once, clinicians need detailed phenotypic information to determine which are relevant to each patient's condition. PhenoTips is a digital platform that uses structured phenotypic data from sources like the Human Phenotype Ontology to help match patients to potential diagnoses, genes, and other related information to support precision medicine. It allows data sharing between hospitals, clinics, and research initiatives to help solve more rare disease cases.

1. Orion Buske, CEO
orion@phenotips.com
Phenotypes
(and their role in rare disease diagnosis)
CORD Spring Conference
June 2022

2. How to provide a timely and accurate diagnosis?
Genome sequencing allows us to diagnose
1000s of genetic conditions with a single test
But it’s not really a single test, it’s thousands
or millions of them, all in parallel
We need to know which are relevant to the patient’s
condition

3. Labs frequently have to re-contact the ordering clinician to get more
detailed information
— GeneDx XomeDx
— Invitae Exome
The patient phenotype drives genomic diagnostics

4. phe·no·type /ˈfēnəˌtīp/
4
noun BIOLOGY
the set of observable characteristics
of an individual resulting from the
interaction of its genotype with the
environment.
What is a phenotype?
One eye
Short stature
Yellow skin
Sparse scalp hair
Conspicuously
happy disposition

5. Human Phenotype Ontology
13,000+ terms; 156,000+ associations to
7,000 rare diseases and 4,000 common diseases
eye disease
abnormal eye
morphology
coloboma
globe
abnormality
neurologic skeletal
...
abnormality
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6. Structured data helps computers help us
6
diagnosis
phenotype–disease
genome analysis
phenotype–gene
matchmaking
phenotype–phenotype

7. 7
Patient
Specialist
Genetic
Counselor
EHR
PhenoTips
Labs
Digital
transformation
Data interoperability
Workflow efficiency
Patient safety
Precision
medicine
PhenoTips: digital infrastructure for genomic medicine

8. Features to simplify deep phenotyping
Smart search Smart measurements
Microcephaly [HP:0000252]
[...] The patient presents with osseous maturation
and mild intellectual disability. Craniofacial
features include flat nasal bridge, large ears, long
philtrum, micrognathia, loose skin, and a triangular
face. [...]
Text mining

9. genes
rare diseases
family history
phenotype
genotype
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PhenoTips is the genomic medicine platform
with phenotype at its core

10. Hospitals
Portable data enables matchmaking
Research Clinics
National and International Initiatives
Matchmaking
Unsolved Cases
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Check out the May 2022
special issue in Human
Mutation! [open access]

11. A huge thank you to our team, and
all the people and organizations
that have supported the project,
and the patients, providers and
researchers we are trying to benefit
through it.
Thank you.
orion@phenotips.com
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