We're thrilled to be backing Lamar Health, a software provider to clinical geneticists. The provider is creating a clinical software platform for making peer-to-peer shared clinical notes for patients with rare genetic diseases. Clinical care recommendations in rare disease have been historically fragmented, with condition-specific experts few and far between. Lamar’s platform provides an easy-to-use tool for clinicians to rapidly stay up-to-date on the latest standard of care using their trusted peer network. Deep learning models enable clinicians to provide improved genetically-guided treatment options. At the same time, patients can be identified and screened for eligibility for research and clinical trial opportunities, a critical shortcoming in rare disease research.

Research output in genetic diagnostics and treatments has never been so rapid — keeping up is hard for doctors

The drop in testing costs has enabled genetic testing to be adopted as part of the standard of care. Costs are expected to drop further with the entry of new sequencing players, including MGI and Ultima. Exciting and controversial research has been brought forward due to these market shifts with the potential to impact every person born: screening all newborns at birth by state labs and children’s hospitals.

Against this backdrop, treatment varieties that can be theoretically applied to many genetic diseases are arriving. This includes enzyme replacement therapies, mRNA therapies, CRISPR, and antisense oligonucleotides. Heralding a realization of precision medicine are successful therapies such as Spinraza, which has allowed children with spinal muscular atrophy (SMA) to walk for the first time.

As sequencing becomes more accessible and treatments come online, care providers have the challenge of sorting through new information quickly. Historically, publications on rare diseases and treatments for rare diseases were sparse. Today, as further information on DNA changes and care management gets updated, there aren’t efficient ways to stay up-to-date besides manually sifting through guidelines, databases, papers, and emailing colleagues.

The solution and the team behind Lamar Health

Lamar Health has just launched its clinical note builder for genetic providers to create and share disease-specific clinical notes. No PHI, EHR integration, or changes in the workflow are required. All clinical databases, such as OMIM and GeneReviews, are centralized, and easy-to-use tools allow providers to create notes quickly and efficiently.

As users build notes, data is collected on the most helpful information. A natural language processing model is trained on the information to improve search results and curation efforts over time. A core feature is the ability of clinicians to share notes with their peers within their department or worldwide. Ultimately, this tool solves rare disease data sparsity problems by creating a structured platform for sharing insights and collaborative learning between leading experts.

Linked within their clinician tool are services for patients. Within their HIPAA-compliant patient app, patients can track and monitor their condition over time and opt-in to receive personalized updates for new clinical trials or research opportunities. For patients that consent to participate, de-identified genomic data tied with clinical outcomes from electronic health records (EHR) is structured and organized to power research into improving diagnostics or therapeutics or verify patient eligibility for clinical trials.

Doctors and genetic counselors at notable institutions such as Stanford Medicine, UCSF Children's Hospital, University of Illinois Health, UPMC Medical Center, and Genome Medical have participated in the alpha and beta phases of designing the product.

Eesha Sharma, Ph.D., is the CEO and co-founder of Lamar Health. Sharma obtained her Ph.D. in Molecular Genetics from the University of Toronto and was a postdoctoral fellow at Stanford Genetics, where she patented three methods licensed to biotech or pharmaceutical companies. Having been a Rare Sibling, she’s propelled to make the future better for families faced with rare genetic conditions.

Serhiy Shekhovtsov is the lead software engineer and co-founder and has over 15 years of experience in software engineering and machine learning research. Shekhovtsov was also a co-founder and founding engineer at ShortPoint, a SaaS startup.

Thanks to their market expertise and vision, we're confident that the Lamar Health team will enormously improve the treatment and management of rare genetic diseases. We are excited to work with them.