PhenoTips Speaker Series presents: Matchmaking for Rare Disease Diagnosis with Matthew Osmond, Genetic Counsellor at CHEO and Care4Rare Matchmaking Genetic Counsellor. February 15th 2026, 12-1 pm EST.
To celebrate #RareDiseaseDay, we've invited Matthew Osmond, #CHEO Genetic Counsellor & #Care4Rare Project Manager, to join a #SpeakerSeries panel on #Matchmaking for #RareDisease Diagnosis.
Join Matthew and other #PatientMatchmaking pioneers live: us06web.zoom.us/webinar/regi...
09.02.2026 22:33 β π 2 π 0 π¬ 0 π 0
Rare Disease Day Virtual Special Issue: Journal of Genetic Counseling
Click on the title to browse this issue
Feb 28th is #RareDiseaseDay! The Journal of Genetic Counseling has updated our virtual issue with all the new papers we have published in this area in the last year, & made the whole curated collection available for everyone to read for the month:
onlinelibrary.wiley.com/doi/toc/10.1... π§ͺ
06.02.2026 19:11 β π 12 π 4 π¬ 1 π 0
PhenoTips Speaker Series Presents: Matchmaking for Rare Disease Diagnosis with Dr. Nara Sobreira, Matthew Osmond, CGC, and Dr. Orion Buske. Hosted by DNA Today's Kira Dineen. February 25th 2026 12 - 1 pm EST.
We're celebrating an early #RareDiseaseDay with a #webinar on "Matchmaking for #RareDisease Diagnosis."
Hosted by @dnatodaypodcast.bsky.social's @kiradineen.bsky.social & featuring #PatientMatchmaking pioneers Dr. Nara Sobreira, Matt Osmond & Dr. Orion Buske
us06web.zoom.us/webinar/regi...
03.02.2026 21:16 β π 0 π 0 π¬ 0 π 0
A picture of Terrell Parker, a white man in a black blazer and blue shirt, speaking to anonymous conference attendees at PhenoTips' booth at the Festival of Genomics & Biodata 2026.
There's just 1 hour left to visit us at #FOG2026!
If we haven't had the opportunity to speak with you yet, we would love the chance to show you the #GenomicHealthRecord & share ideas about preparing the #NHS for #GenomicMainstreaming.
Visit Booth #187 before the day ends!
29.01.2026 17:02 β π 0 π 0 π¬ 0 π 0
A graphic with a blue and purple gradient background and a white semi-circle in the top-left corner containing the logo for The Festival of Genomics and Biodata London 28-29 January 2026. There are two circular images of the PhenoTips booth and team members at the conference booth, with a dashed white line snaking around them and ending with a location marker. Above the location marker is text reading "Meet us tomorrow at #FOG2026", and below is bold text that says "BOOTH #187" with the PhenoTips logo under it.
If you're attending #FOG2026 this week, don't miss your chance to stop by Booth #187!
The PhenoTips team is looking forward to connecting with you in person & giving you a tour of the complete #GenomicHealthRecord.
Book time at our booth today: meetings.hubspot.com/jlooyis/fog-...
26.01.2026 22:47 β π 0 π 0 π¬ 0 π 0
A graphic with a blue and purple gradient background. A white semicircle on the upper left side contains the logo for the Festival of Genomics & Biodata London, 28-29 January 2026. A dashed white line snakes around the semicircle and around text that reads "We're exhibiting at #FOG2026. Meet us in London." The line ends in a location marker above bold text that reads "Booth #187". On the bottom left side is the PhenoTips logo in white.
Will you be attending #FOG2026?
Visit booth #187 in ExCel, London, to meet the PhenoTips team, explore our software, and find out how PhenoTips is supporting #GenomicMainstreaming in the UK with the complete #GenomicHealthRecord.
Book time at our booth: meetings.hubspot.com/jlooyis/fog-...
06.01.2026 21:34 β π 0 π 0 π¬ 0 π 0
2025: PhenoTipsβ Year in Review - PhenoTips
This year marks a new period of growth for PhenoTips. We closed a $2M Seed Round, expanded our team and Genomic Health Record software, and won several awards.
Happy New Year! From an exciting update to PhenoTips' variant-capturing abilities to an entirely new version of the #GenomicHealthRecord, there's a lot to look forward to in 2026. π‘
Here's what you missed in 2025 and what to expect this year. π
Read the #BlogPost: phenotips.com/blog/a-year-...
05.01.2026 22:31 β π 1 π 0 π¬ 0 π 0
A grid graphic with a blue gradient background. In the center text says, "2025: A Year in Review". The grid contains, top row left to right, the PhenoTips logo, an icon of a list on a clipboard, an icon of a graph trending upwards, a team photo of the PhenoTips team. Bottom row left to right, a single parent family pedigree on a laptop screen, the Undiagnosed Hackathon logo, and the badge for the HRD 2025 Best Places to Work award.
2025 marked a new period of growth for PhenoTips, with the closure of our Seed Round & the expansion of our team and #GenomicHealthRecord.
Discover the milestones we reached in 2025 & find out how the complete Genomic Health Record will evolve in 2026.
β‘οΈ phenotips.com/blog/a-year-...
22.12.2025 22:18 β π 0 π 0 π¬ 0 π 0
A graphic with a blue gradient background and a 5 generation pedigree on the right-hand side in blues, white, and greys. The pedigree shows complex family systems, pregnancies, an adopted individual, twins, and more. Text to the left reads "National Family Health History Day 2025" followed by the PhenoTips logo.
Today is #NationalFamilyHealthHistoryDay!
Capturing #FamilyHistory is essential to #genetics, that's why our #GenomicHealthRecord includes a #Pedigree tool designed to capture even the most complex family histories intuitively & interoperably
Learn more: t.co/PPORBRY82Z
27.11.2025 21:51 β π 0 π 0 π¬ 0 π 0
A graphic with the "Genetic Counselor Appreciation Day, November 13" logo on the left-hand side. To the right, dark blue text over a blue gradient background lists the following episode titles:
1. The Evolving Role of Genetic Counselors in Precision Medicine
2. Genetic Counselors in Leadership Roles
3. The Adoption and Impact of Digital Tools in Genetic Counseling
4. The Future of Genetic Counseling
5. The Future of Hereditary Cancer Genetic Counseling
6. Gender Affirming Care in Genetic Counseling
7. Navigating Burnout in Genetic Counseling
8.
LGBTQIA+ Affirming Prenatal Genetic Counseling
9. The Role of Genetic Counselors in Genomic Mainstreaming
10. Genetic Counseling with PhenoTipsβ Pedigree Software
11. Gender Affirming Cancer Genetic Counseling
To the right of the list is the PhenoTips Speaker Series logo, a speech bubble containing a DNA helix icon.
#GeneticCounselors play a vital role linking #genetics to patient care. #GeneChat
To celebrate #GeneticCounselorAppreciationDay, we created a playlist of #SpeakerSeries episodes supporting GCs in the evolving landscape of healthcare & #genomics.
πβΆοΈ: www.youtube.com/playlist?lis...
12.11.2025 21:52 β π 1 π 0 π¬ 0 π 0
A picture of Dr. Orion Buske at the PhenoTips booth at BSGM 2025
We're at @bsgmofficial.bsky.social today!
Connecting with genetics researchers, clinicians, and thought leaders aligning towards a common goal of #GenomicMainstreaming in the UK has been inspiring!
Stop by our table and speak with Dr. Orion Buske before 6pm today! #BSGM2025
05.11.2025 15:28 β π 2 π 0 π¬ 0 π 0
Genetic Counseling w PhenoTips Pedigree Software - PhenoTips
A discussion and mock genetic counseling session showcasing the practical application of PhenoTipsβ pedigree software in the clinic.
November is #FamilyHealthHistoryMonth π³
Watch the mock #GeneticCounseling session hosted by @dnatodaypodcast.bsky.social's @kiradineen.bsky.social, to see how intuitive it can be to capture a digital #PedigreeChart with PhenoTips' #PedigreeSoftware. #GeneChat
phenotips.com/speaker-seri...
03.11.2025 23:01 β π 0 π 1 π¬ 0 π 0
PhenoTips Speaker Series Presents: Proving Profitability in Genomics with Dr. Colleen Campbell, Director of Genetic Counseling Operations for University of Iowa Health Care, Immediate Past President of the National Society of Genetic Counselors. September 29th, 2025, 12-1 pm EDT
Thank you to all attendees of today's #webinar!
A special thank you to our panel members, Marianne Olson, Dr. Eric Green, Dr. Colleen Campbell, Brian Reys, & our host @kiradineen.bsky.social, for providing us with incredible insights and perspectives.
The recording will be available soon!
29.09.2025 19:46 β π 0 π 0 π¬ 0 π 0
PhenoTips Speaker Series Presents: Proving Profitability in Genomics with Brian Reys, CGC, Marianne Olson, CGC, Dr. Collen Campbell, and Dr. Eric Green. Hosted by DNA Today's Kira Dineen. September 29th 2025 12-1 pm EST.
Announcing a new addition to our #webinar panel!
Dr. Colleen Campbell will join Dr. Green, Brian Reys, & Marianne Olson to discuss building business cases and proving the value of #genetics. Hosted by @dnatodaypodcast.bsky.social's Kira Dineen. #GeneChat
Register: us06web.zoom.us/webinar/regi...
08.09.2025 19:03 β π 1 π 1 π¬ 0 π 0
PhenoTips Speaker Series Presents: Proving Profitability in Genomics with Brian Reys, CGC, Marianne Olson, CGC, and Dr. Eric Green. Hosted by DNA Today's Kira Dineen. September 29th 2025 12-1 pm EST.
Registration for "Proving #Profitability in #Genomics" is open!
Join @dnatodaypodcast.bsky.social's Kira Dineen & #genetics thought leaders & revenue researchers to discover how to build strong business cases & highlight the benefits of genetics. #GeneChat
π«Freeβ¬οΈ: us06web.zoom.us/webinar/regi...
02.09.2025 20:15 β π 1 π 1 π¬ 0 π 0
A graphic with text at the top reading "HIRING: Genetics Workflow Consultant" and a picture of the PhenoTips team below. A blue transparent layer is overlaid on the bottom with white text reading, "Shape how clinicians use genomics software and support digital champions. Competitive Salary & Equity Options. Canada-based, Flexible, & Remote"
PhenoTips is #Hiring a #GeneticsWorkflowConsultant with experience in #GeneticCounseling/#MedicalGenetics & a passion for driving #technology adoption in #healthcare.
Join our innovative team supporting #genomic digitization! #GeneChat
Apply today: www.linkedin.com/jobs/view/42...
22.08.2025 21:04 β π 1 π 0 π¬ 0 π 0
A graphic with a blue and purple gradient background and a white semi-circle in the top-left-hand corner containing the logo for HGSA 48th Annual Scientific Meeting "Genetic Ecosystems", 15-18 August 2025, ICC Sydney, NSW. The body of the graphic contains two circular images of Joel Looyis and Dr. Orion Buske speaking to anonymous conference attendees at the PhenoTips booth. A dashed white line snakes around the images and around text reading "Meet us tomorrow at #HGSA2025", ending in a location marker above bold text that says "BOOTH #17" followed by the PhenoTips logo.
Meet us tomorrow at #HGSA2025πBooth #17
Visit us during the @HGSAAustralasia opening reception tomorrow to see the complete #GenomicHealthRecord in action, meet our team, including Co-Founder Dr. Orion Buske, & discover how PhenoTips is connecting #GeneticEcosystems worldwide.
See you there!
13.08.2025 21:33 β π 0 π 0 π¬ 0 π 0
A graphic with a blue and purple gradient background and a circular photo of Joel Looyis speaking to an anonymous booth attendee at a conference. Text to the right of the photo reads, "Meet Joel Looyis, Growth Manager, PhenoTips." A dashed white line snakes around the photo and ends in a location marker over text reading "BOOTH #17". In the bottom right-hand corner is a white circle containing the logo for the HGSA 48th Annual Scientific Meeting, "Genetic Ecosystems", 15-18 August 2025, ICC Sydney, NSW.
Will you be attending #HGSA2025?
Meet Joel Looyis at Booth #17 to explore PhenoTips' #GenomicHealthRecord, the complete solution for #genomic #DataManagement supporting collaboration & clinical innovation central to #GeneticEcosystems.
We look forward to meeting you!
25.07.2025 20:01 β π 1 π 0 π¬ 0 π 0
A graphic showing PhenoTips embedded within a Cerner EHR interface on an open laptop. Three icons in blue circles surround the laptop with dashed lines and arrows connecting the laptop to the icons. Some dashed lines have arrows showing flow in both directions, and some have arrows showing flow in one direction. The icons are a gene representing variant prioritization tools, a beaker representing laboratory information management systems, and a computer with "EHR" in the middle.
PhenoTips' #GenomicHealthRecord unites multiple digital systems through seamless #integrations.
Harnessing #RESTfulAPIs, #HL7V2, & #FHIR, PhenoTips replaces error & breach-prone data transfers, making inter-system communication 2x as secure.
Learn more: phenotips.com/seamless-int...
24.07.2025 20:31 β π 1 π 0 π¬ 0 π 0
A graphic with a blue and purple gradient background and a white semi-circle on the top left-hand side containing the logo for "GENETIC ECOSYSTEMS: HGSA 48th Annual Scientific Meeting, 15-18 August 2025, ICC Sydney, NSW." The PhenoTips logo is on the bottom left-hand side. A dashed white line snakes around the white semi-circle and ends in a location marker, above which text reads "We're exhibiting at the 48th HGSA Annual Scientific Meeting. Meet us in Sydney, AUS", and below which bold text reads "BOOTH #17"
PhenoTips will be exhibiting at the 48th #HGSA Annual Scientific Meeting next month in #Sydney, #Australia.
Meet us at #HGSA2025 to explore the #GenomicHealthRecord, the tool digitising genetics, uniting systems, & enabling next-generation personalised care & #PrecisionMedicine.
See you there!
22.07.2025 21:30 β π 2 π 0 π¬ 0 π 0
A white graphic with a laptop open to PhenoTips' Genomic Health Record's pedigree maker, showing a 4-generation, complex, annotated pedigree. Overlaid on top of the computer are multiple blue icons: a strand of DNA, a cancer awareness ribbon, a user folder, a pedigree, and a sending mail icon. Text to the right reads, "Center genomic care with the EHR-integrated Genomic Health Record."
#ElectronicHealthRecords are not designed for #genetics, but a #GenomicHealthRecord is.
Embedded within your #EHR, the #GHR is a searchable & structured database of patient records linked to family records, complete with all the tools necessary for digitization.
β‘οΈ phenotips.com/core-genomic...
16.07.2025 18:32 β π 0 π 0 π¬ 0 π 0
We're excited to participate in the 3rd #UnidagnosedHackathon hosted by @wilhelmfoundation.bsky.social & @mayoclinic.org.
These #Hackathons are incredible opportunities fostering collaboration between international, multi-disciplinary experts towards answers for #Undiagnosed participant families.
15.07.2025 19:31 β π 0 π 0 π¬ 0 π 0
Time flies when you've having fun, and openEHR is going from strength to strength - we'll be adding in cancer & rare disease registries, pharmacogenomics, lab safe harbour data - all sorts of good stuff. Thanks @phenotips.bsky.social :-)
14.07.2025 21:45 β π 1 π 1 π¬ 0 π 0
The Role of OpenEHR in Transforming Patient Care - PhenoTips
Dr. Shane McKee, Chief Clinical Information Officer for Belfast Health and Social Care Trust, discusses how openEHR is transforming patient care delivery.
It's the 4th anniversary of our #SpeakerSeries #webinar featuring @shaneir.bsky.social, "The Role of OpenEHR in Transforming Patient Care."
Watch the on-demand discussion hosted by @dnatodaypodcast.bsky.social's Kira Dineen to discover the power of #OpenEHR.
phenotips.com/speaker-seri...
14.07.2025 21:09 β π 1 π 1 π¬ 0 π 1
A white graphic with a circular headshot of Krista Pace, Head of Product at PhenoTips. Beside her image is her quote: "As genomic testing becomes more mainstream, the volume of relevant data will continue to increase, but several factors complicate straightforward, structured integration of genomic data in EHRs that would ultimately provide direct insights to clinicians."
PhenoTips is more than a #PedigreeTool, it's a complete Genomic Health Record. But what is a #GenomicHealthRecord?
PhenoTips' Krista Pace breaks down the #ElectronicHealthRecord designed for #genomic integration in a #BlogPost.
Read more: phenotips.com/blog/genomic... #GeneChat #PrecisionMedicine
08.07.2025 20:55 β π 0 π 0 π¬ 0 π 0
A white graphic with the PhenoTips logo in the bottom right-hand coner and text reading "Press Release: Microsoft Xbox Co-Founder, Cameron Gerroni, Joins PhenoTips as CTO". To the left is a circular headshot of Cameron Ferroni.
Last month, we announced the appointment of @xbox.com Co-Founder Cameron Ferroni as CTO of PhenoTips.
βGiven my extensive background with technology & healthcare, Iβm excited to help deliver better products faster, ultimately leading to life-saving personalized care.β
phenotips.com/press/camero...
03.07.2025 18:44 β π 0 π 0 π¬ 0 π 0
Podcasts β Gene Pool Media
The PhenoTips #SpeakerSeries is a proud member of Gene Pool Media, a network of #genetics, #healthcare & #RareDisease podcasts.
Check out our fellow #GenePoolMedia podcasts, βͺ@kategenetics.bsky.social, @dnatodaypodcast.bsky.social,
@matt-the-gc.bsky.social⬠& more!
www.genepoolmedia.com/podcasts
02.07.2025 18:23 β π 1 π 1 π¬ 0 π 0
A Timeline of LGBTQIA+ Inclusivity in PhenoTips - PhenoTips
PhenoTips is committed to continually evolving our Genomic Health Record software to help clinicians represent all patients and families with clarity and care.
With every update of PhenoTips' #GenomicHealthRecord, we ensure our software respects patients, assists clinicians, and adapts alongside evolving standards.
This #PrideMonth, we're sharing a timeline of #LGBT+ inclusivity in PhenoTips. #GeneChat
Read the #Blog: phenotips.com/blog/a-timel...
25.06.2025 20:36 β π 0 π 0 π¬ 0 π 0
PhenoTips Speaker Series Presents: Gender Affirming Cancer Genetic Counseling with Kimberly Zayhowski, Josphine Giblin, and Diane Koeller. Hosted by DNA Today's Kira Dineen. June 18th 2025, 12-1 pm EST.
Last chance to register for tomorrow's #PrideMonth #webinar!
Celebrate #Pride with leading advocates & researchers at the intersection of #GenderAffirming care & cancer #GeneticCounseling! Hosted by @dnatodaypodcast.bsky.social's Kira Dineen. #GeneChat
Reg. 4 free: us06web.zoom.us/webinar/regi...
17.06.2025 19:56 β π 1 π 1 π¬ 0 π 0
We provide global expertise in molecular testing that drives patient care. Visit www.amp.org to become a member or partner.
π§¬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
The Gabriella Miller Kids First Data Resource Center (Kids First DRC) is a collaborative pediatric research effort with a goal to understand the genetic causes and links between childhood cancer and congenital disorders. Learn more: linktr.ee/kidsfirstdrc
Cancer genetic counselor | Queer | Disabled | #ActuallyAutistic | Anti-racist, gender inclusive healthcare | All views expressed are my own. she/they
www.katemittendorf.com
#cancer π§« #Genomics 𧬠#d&i π₯ #SciArt π¦ #HealthEquityπ©Έ #inclusion in STEM π research education/training π¬#LGBTQhealth #QueerinSTEM π³οΈβπ they/them π³οΈββ§ #DisabledInSTEM βΏοΈβΎοΈ opinions/typos mine #ArtSci #SciSky #OncoSky #GeneChat
genetic counselor (neuro/psych), fiber arts and other crafty stuff, film photography, science art, cats, fancy pens, words, etc. π¨π¦πΊπΈ
Est. 1929, JAX is a nonprofit scientific research institute specializing in genetics, genomics, mouse, and cellular models of disease. www.jax.org
π§¬π¨ββοΈAcademic Consultant in Clinical Genetics π¬ ESHG Social media chair. π€ @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
https://www.nature.com/ejhg/
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
RDND Lab at Kingβs College London led by Cristina Dias. Clinical Geneticist and Rare Disease researcher. Rare Conditions, neurodevelopmental disorders of chromatin regulation and chromatin remodeller-TF interactions.
https://tinyurl.com/rdndkcl
Belfast Trust delivers integrated health & social care to Belfast and NI. Account monitored 9-5, Mon-Fri. Any questions email: info@belfasttrust.hscni.net
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. π§¬π¦πΊ
GCR Connect is a network for genetic counsellors in research across Australasia. GCR Connect offers peer support, resources, and a space to discuss research-specific challenges. Endorsed by HGSA & supported by ASGC.
Swedish-based international organisation leading the charge in fostering collaborations among researchers, PLWUDs and healthcare providers to find answers for individuals and families affect by undiagnosed diseases.
Mayo Clinic is an integrated medical practice, education and research institute. https://linkin.bio/mayoclinic