Invitae’s Post

Genetics is still largely exception based. Everyone who is indicated for testing gets tested EXCEPT most people, like ~ 70% of those with relevant cancers and >90% with family history who are never offered testing. Better system integration helps break down these exceptions and enables providers to deploy testing more broadly, meaningfully. Invitae is driving an integrated solution for providers and heath systems.

Because genetic tests are newer, clinicians and health plans are less able to evaluate their worth. The inability to better manage genetic testing also stands in the way of health care’s transition to value-based care. Without better knowledge of which tests deliver true value, it’s hard for providers and health plans to use these amazing tools to their greatest effect. #healthcare #genetictesting #valuebasedcare

There are literally thousands of genetic tests available on the market and more introduced every day. They have the potential to dramatically reduce the costs associated with patient care while simultaneously improving patient health outcomes. However, as a provider it can be hard to know which of these amazing tools deliver the most value. Have you utilized more genetic tests and incorporated their results in your practice? STAT - https://bit.ly/475Ypyt

Genomic labs are doing much more than helping physicians make basic diagnoses. In fact, through what we call multiomics, they help to provide a more detailed view of an individual’s health profile. In this article, Ephrem Chin, head of global OMIC services at Revvity Omics, introduces multiomics’ impact on healthcare decision-making, how to improve accessibility and what’s on the horizon. Click here to read on Bio-IT World: http://ms.spr.ly/60439LBC1

As we witness the incorporation of genetic testing into routine primary care, it marks a significant leap towards personalized healthcare. However, this innovation prompts critical financial considerations for both individuals and healthcare providers. The question of investment in genetic testing and subsequent diagnostics and care is paramount. Visit our blog as we delve into the potential and challenges of this cutting-edge approach to healthcare. https://bit.ly/4c6qc5c

Advancements in genetics have steadily captured the attention of the medical community and of the general public over the years. For healthcare providers, it can be challenging to stay well-informed about the subject while also understanding how to best support patients in their healthcare journeys. The good news is that there are resources available to help navigate this evolving landscape and provide patients with the care they deserve.     Learn more about the tools and resources providers can use to support their patients in our latest blog below:  

#ClinicalGenetics is evolving in many countries, with #genomictesting being integrated into mainstream clinics and managed by non-genetics specialists. This shift requires extensive educational and service development. Integrating a #GeneticCounsellor into #primarycare can reduce referrals to hospital departments and improve access to #genetictesting. However, the process is sequential, with initial resistance and uncertainty among primary care physicians. #clinicalgenomics #genomicmedicine #huamgenetics #medicalgenetics #precisionmedicine https://lnkd.in/drdBR9RU

Improving healthcare involves various interconnected factors, spanning individuals, government, society, pharma, life science and tech, and data experts. Addressing individualized acute diseases reliant on local data is a challenge. But, How can data science assist in managing care for such cases? https://lnkd.in/eGtDnZEA

Less than three months ago, my son was diagnosed with Pituitary Stalk Interruption Syndrome (PSIS)—a 0.5 in 1 million live birth congenital disorder. February is Rare Disease Month, a time to raise awareness for the over 7,000 known rare diseases affecting an estimated 300 million people worldwide. While each rare disease only affects a small percentage of the population, collectively, they have a significant impact. A key challenge with rare diseases is that they often go undiagnosed or misdiagnosed due to a lack of awareness and data. Informatics can play a crucial role by enabling data connections that lead to faster diagnosis and life-changing treatments. Informatics tools such as machine learning algorithms, genomic databases, patient registries, and data-sharing platforms are invaluable for rare disease communities. They help link patients to vital resources, identify patterns and new genotype-phenotype associations, recruit for clinical trials, and inform drug development and repurposing opportunities. The possibilities when data is shared and analyzed using the latest technologies are astounding. Combining artificial intelligence with human expertise has led to breakthroughs in solving previously intractable rare diseases. But more work still needs to be done. Despite recent strides, 95% of rare diseases still lack an FDA-approved drug treatment. Better rare disease informatics and data sharing are essential to finding more diagnoses, treatments, and cures. I encourage my network leading up to Rare Disease Day to learn more about rare disorders, support rare disease communities, and get involved in informatics efforts, making a difference for millions of underserved patients worldwide. Together, we can drive progress through data-enabled innovation. #RDDNIH #bigdata #informatics

Advances in genomic screening are dramatically enhancing prenatal and neonatal healthcare, providing families with newfound hope and a broader spectrum of care options. 🌟 Our latest report report explores how these technological breakthroughs are reshaping care, the ethical dilemmas they bring to the forefront, and the future implications for patients and healthcare providers alike.👇 https://lnkd.in/e2DH2C2j #ClinicalTrials #PrecisionMedicine #NewbornScreening