PPMH – Program for Precision Medicine in Health Care

Symposium – Beyond the Horizon: The Changing Landscape of Rare Disease Treatments

snpowell — Tue, 28 Jan 2025 21:57:28 +0000

PPMH Offering $3,000 Pilot Awards for GENYSIS Core Facility Services

Elizabeth Hutchins — Mon, 13 Jan 2025 21:18:10 +0000

The Program for Precision Medicine in Health Care (PPMH) is supplying $3,000 pilot awards for services with the Clinical Genomic Analysis (GENYSIS) Core Facility. GENYSIS is a research service that collaborates with the BioSpecimen Processing (BSP) facility, the High-Throughput Sequencing Facility (HTSF), and the McLendon Molecular Genetics Laboratory (MGL), enabling researchers to offer validated reporting of clinically relevant results to participants who have genomic sequencing as part of their IRB-approved studies. PPMH Pilot Awards are intended to fund GENYSIS services for small proof-of-principle clinical genomic research projects with the aim to assist investigators in generating preliminary data to support larger grant applications that include GENYSIS services. Members of the�� Program for Precision Medicine in Health Care also qualify for the member rate which subsidizes 80% of the GENYSIS services costs. Please see the GENYSIS website or email genysis@email.unc.edu for more information. Applications are due January 31^st and can be found here. Please email all applications as a PDF to precisionmedicine@med.unc.edu. Pilot award recipients will be announced at the end of February 2025.

PPMH Provides Conference Award, Followed by a Small Summit with PPMH, Moving Forward Precision Psychiatry at ��

Elizabeth Hutchins — Mon, 16 Dec 2024 17:17:37 +0000

In September 2024, the PPMH supplied a $300 conference award to Dr. Alissa Hutto (Clinical Assistant Professor, Department of Psychiatry) to attend the “Massachusetts General Hospital 4^th Annual Conference on Precision Psychiatry: Innovation to Implementation”. Following the conference, the PPMH arranged a small summit with the goal of further generating ideas to advance precision psychiatry at ��. Summit attendees included Dr. Hutto and the newly established Precision Psychiatry group at ��, as well as PPMH Core members with expertise in EHR systems, pharmacogenomics, and clinical variant analysis. Areas of interest moving forward include methods to train EHR AI algorithms, creating simple decision support tools for non-psychiatrists, pharmacogenomic testing for drug selection, and teasing out the EHR structure of subjective vs. objective psychiatric data.

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PPMH Announces New Medical Student Elective Course

snpowell — Mon, 04 Nov 2024 16:22:57 +0000

PPMH has launched a new elective course for �� medical students: Genomic & Precision Medicine (MEDI 455). The 4-week elective explores how innovations in cutting-edge technology & systems-based thinking can be applied to improve patient outcomes in the health care system. A deep dive into genomic science and technology and emerging trends in precision medicine defines the promises offered and challenges to overcome. The elective also touches on how we can prevent new technologies from perpetuating health care disparities.

The course lead faculty are Jonathan Berg, MD/PhD, and Kristy Lee, CGC. Additional instructors include Mike Adams MD, Creede Caldwell, Amber Cipriani PharmD, Kelly Gilmore CGC, Shannon Gray PhD, Jason Merker MD/PhD, Tamara Roman PhD, Tam Sneddon DPhil, Bjoernar Tuftin MSc, and Neeta Vora MD. Two students enrolled in the elective during September – October 2024. After starting with an introduction to clinical genetics & genomics, they studied variant interpretation, pharmacogenomics, tumor profiling, and precision medicine. Students gave end-of-course presentations on variant interpretation, an All of Us research project, and a clinical decision support research project.

The elective will be offered again in February 2025.To enroll, contact Sabrina Powell (sabrina_powell@med.unc.edu).

Workshop Series: Research at �� with All Of Us Data – Getting Started

snpowell — Mon, 28 Oct 2024 18:10:26 +0000

is an NIH-supported research program that brings together academic institutions, healthcare organizations, and community partners to gain deeper insights into human health via data science. With an emphasis on representing diverse US populations, All Of Us provides access to clinical, genetic, wearables, and personal survey data for over 250K patients in a secure, cloud-hosted analytics environment known as the Researcher Workbench. By collecting such comprehensive health information into a single platform, the program seeks to improve medical research and advance personalized medicine for all. ��

The Raffield Lab, , and �� Program for Precision Medicine in Health Care (PPMH) presented a workshop series in September-October 2024 to introduce researchers, clinicians, faculty, staff, and students at �� to both the Researcher Workbench and All Of Us data. These workshops allowed attendees to connect with colleagues with similar interests.��

Workshop content covered both the types of data that are available at the Researcher Workbench and the types of research it can be used for. Scientists at �� who are already involved in All Of Us research projects gave brief summaries of their projects. Attendees were divided into small groups based on shared research interests, and the small groups brainstormed research questions they would like to investigate and ways that the research questions could be investigated.

GENYSIS Core Featured in a �� Research Article

Elizabeth Hutchins — Wed, 12 Jun 2024 19:56:46 +0000

A recent �� Research Article focusing on Core Facilities at �� featured one of PPMH’s eight Core Initiatives, the Clinical Genomic Analysis (GENYSIS) Core.

An excerpt from the article:
As one of the newer core facilities at Carolina, GENYSIS aims to help researchers analyze whole exome and genome sequences — looking at a person’s entire genetic code. By working with existing core facilities, such as the and High-Throughput Sequencing Facility, GENYSIS can provide a unique service for researchers looking to add clinical genetic sequencing, analysis, and results reporting to a study.”

Click to view the full article.

Working Towards Justice and Genetic Health Literacy in Clinical Genomics

Elizabeth Hutchins — Wed, 22 May 2024 09:00:45 +0000

A seminar and panel about working towards justice and genetic health literacy in clinical genomics and the complexity of supporting informed decision making by members of vulnerable or marginalized groups.

Featured Speakers:

Dr. Janeth Sanchez, PhD, MPH: Program Director for Health Equity at National Institutes of Health
Dr. Janina Jeff, PhD, MS: Bioinformatics Scientist at Illumina, Host of In Those Genes Podcast

Event Recording:

Unlocking Equity: Disability Inclusion in Precision Medicine Research

Elizabeth Hutchins — Fri, 10 May 2024 20:30:33 +0000

Despite comprising about 27% of the US population, the disability community has remained largely absent from diversity, equity and inclusion (DEI) efforts in precision medicine and genomics research. Research suggests that individuals with disabilities are willing to participate in precision medicine research, yet this group continues to be underrepresented. Reasons for this absence range from inaccessible research protocols (i.e. overly narrow inclusion and exclusion criteria) to the perception that it is too burdensome to recruit or accommodate disabled participants. Research can also be subject to ableism, which discourages marginalized communities from potential research partnerships. If not designed and communicated in ways that respect the complexity and diversity of human genetic variation, identities, and experiences, research risks reifying prejudices that marginalize those it hopes to benefit. This seminar will explore insights into various aspects of disability inclusion within precision medicine and genomics research with a lens on equity, accessibility, participation, and justice.

Event Speakers:

Megan Morris, PhD, MPH
��Associate Professor, University of Colorado, Anschutz
��Founder/Director, Disability Equity Collaborative
Kara Ayers, PhD
Associate Director, University of Cincinnati University Center for Excellence in Developmental Disabilities (UC UCEDD)

Event Recording:

Ensuring Fairness: At the Crossroads of Equity and Economic Considerations in Precision Medicine

Elizabeth Hutchins — Tue, 26 Mar 2024 16:00:37 +0000

Efforts to expand access to genomic health and precision medicine have resulted in a proliferation of screening programs for healthy adult populations across the nation. Issues of fairness and equity abound in medicine and are a critical component of assessing implementation of these genomic health and precision medicine efforts. But how can programs such as genomic screening ensure equitable access within a healthcare system that is already characterized by massive health disparities and barriers to equitable access? When and how should cost-effectiveness be considered when designing screening programs and their offerings? How can cost-effectiveness models incorporate justice, equity and inclusion? In this seminar session, we explore these questions and the overall relationship between equity and economic considerations in precision medicine.

Featured Speaker:

Kate Saylor, PhD
Fellow, Ethical, Legal, and Social Implications of Genetics and Genomics
Perelman School of Medicine at the University of Pennsylvania

Event Recording:

***An error occurred during this event recording and it was split into 2 recordings – Please see both recordings below to view the entire event***

Part 1:

Part 2:

NCCU Workshop – Genetics-in-a-Day: Careers from the Bench to the Bedside

snpowell — Tue, 12 Mar 2024 01:21:58 +0000