Genomic counseling

Passage Bio Partners with InformedDNA® to Offer Genetic Counseling and Testing for Patients with Frontotemporal Dementia (FTD), a Form of Early Onset Dementia

Retrieved on: 
Monday, May 3, 2021

FTD is a debilitating form of early onset dementia that currently has no approved disease-modifying therapies.

Key Points: 
  • FTD is a debilitating form of early onset dementia that currently has no approved disease-modifying therapies.
  • \xe2\x80\x9cBy partnering with InformedDNA, we are able to offer patients with FTD an option to potentially identify whether there is an inherited genetic mutation causing their disease.
  • Individuals will receive initial and post-test genetic counseling over the phone from InformedDNA genetic counselors who are highly trained in hereditary neurological conditions.
  • Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity , and expert genetics support for clinical trials .

Genetic Counseling, the barriers to access, and how we overcome them

Retrieved on: 
Friday, April 30, 2021

Improving patient outcomes starts with an accurate and timely diagnosis.\nFor many people, location is a considerable obstacle to accessing genetic counseling services.

Key Points: 
  • Improving patient outcomes starts with an accurate and timely diagnosis.\nFor many people, location is a considerable obstacle to accessing genetic counseling services.
  • Still, even with larger urban areas and centers, location can be a real barrier to genetic counseling services.\nAs awareness about genetic screening, genetic testing , and rare diseases increases, so does the demand for genetic counseling.
  • It also removes scheduling conflicts and tries to fit genetic counseling and traveling to it into a family's schedule when moved online.
  • From the first meeting with a genetic counselor to more specific guidance with genetic testing and analysis options to understand how to manage a rare disease, online genetic counseling delivers help, information, and support fast.\n"

Genome Medical Expands Technology Infrastructure to Accelerate Delivery of Virtual Genomic Medicine

Retrieved on: 
Thursday, April 29, 2021

It is also the most time consuming data to obtain,\xe2\x80\x9d said Steven B. Bleyl, M.D., Ph.D., chief medical officer of Genome Medical.

Key Points: 
  • It is also the most time consuming data to obtain,\xe2\x80\x9d said Steven B. Bleyl, M.D., Ph.D., chief medical officer of Genome Medical.
  • It brings together its digital infrastructure and an unmatched virtual clinical team, including medical geneticists, genetic counselors, pharmacists, primary care physicians and other specialists.
  • We operate as an independent virtual medical practice, with on-demand genetic expertise, testing recommendations and ordering, and patient navigation platforms that accelerate the delivery of genomic insights as a service.
  • Genome Medical supports partners in every stage of genetic health service implementation and delivery -- from strategy to technology applications to direct patient care -- to widen the reach and impact of precision medicine.

Genetic Counseling and Telehealth: a new virtual solution

Retrieved on: 
Monday, March 22, 2021

Genetic counseling provides three essential services for patients and families:

Key Points: 
  • Genetic counseling provides three essential services for patients and families:
    Exploration of family medical and genetic histories to understand potential or future risk of a genetic syndrome or gene mutation.
  • Genetic counseling, however, is so critical as a part of the rare disease diagnosis journey that from this very real need has developed telehealth services and platforms providing genetic counseling services.
  • Telehealth for genetic counseling connects families to genetic counselors anywhere in the country or indeed anywhere in the world.
  • To meet this need, FDNA Telehealth's AI genetic analysis platform connects patients and their families to a global network of genetic counselors and experts who can provide remote, online, and virtual genetic counseling services.

Foundation Medicine and InformedDNA® Collaborate to Improve Access to Genetic Counseling for Advanced Cancer Patients

Retrieved on: 
Tuesday, March 9, 2021

Foundation Medicines tests evaluate more than 300 cancer-related genes, including genes with variants that may have potential germline implications.

Key Points: 
  • Foundation Medicines tests evaluate more than 300 cancer-related genes, including genes with variants that may have potential germline implications.
  • Through this new collaboration, Foundation Medicine and InformedDNA are helping advanced cancer patients and their physicians navigate the appropriate genetic counseling and confirmatory testing resources available to them should they choose to leverage them to inform treatment plans.
  • InformedDNA is a leader in telegenetic counseling, offering services with board-certified genetic counselors across all 50 states.
  • Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support.

New 3X4 Genetics Report Highlights the State of Consumer Genetic Testing in the US

Retrieved on: 
Wednesday, February 10, 2021

The objective of the report was to understand the state of consumer genetic testing in the US and to gain more insights into why people take genetic tests, what they hope to get out of them, and if they thought their results were useful and actionable.

Key Points: 
  • The objective of the report was to understand the state of consumer genetic testing in the US and to gain more insights into why people take genetic tests, what they hope to get out of them, and if they thought their results were useful and actionable.
  • On October 12, 2020, 600 US consumers who had previously taken a genetic test were surveyed online.
  • Respondents were split down the middle on their intentions for the test: Finding out more about their ancestry or discovering something about their personal health.
  • 3X4 Genetics is a venture-backed genetics-based health network that combines: advanced genetics testing, nutritional genomics education, and a global network of accredited practitioners.

Variantyx Surpasses 2,500 Genomes Analyzed, Highlights the Value of Its WGS-Based Testing Methodology

Retrieved on: 
Tuesday, January 12, 2021

Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th patient genome.

Key Points: 
  • Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th patient genome.
  • The milestone highlights the growing need for whole genome sequencing (WGS)-based tests in patient genetic diagnostics.
  • Review of the cases identified many examples of positive test results using Variantyx testing after multiple rounds of failed exome and other NGS tests.
  • Variantyx is a CLIA/CAP laboratory providing Genomic Unity , a whole genome sequencing (WGS)-based testing program for diagnosis of rare inherited and neurological disorders.

Emedgene collaborates with Illumina to scale the interpretation of genomic data for rare diseases

Retrieved on: 
Wednesday, December 16, 2020

Emedgene's Clinical Rare Disease application is one of a portfolio of artificial intelligence (AI)-powered applications for high-throughput genomic interpretation across clinical and research use cases.

Key Points: 
  • Emedgene's Clinical Rare Disease application is one of a portfolio of artificial intelligence (AI)-powered applications for high-throughput genomic interpretation across clinical and research use cases.
  • The genomic interpretation market transforms data into meaningful insights that improve patient care and impact the many different medical disciplines that incorporate genomics into routine care.
  • As next generation sequencing has become readily accessible throughout the globe, data interpretation of sequencing outputs has struggled to keep pace.
  • Emedgene's Cognitive Genomics IntelligenceTM solution automatically produces insights from genomic data, reducing the time and cost of its interpretation.

Leading Diagnostics Companies Join Forces to Establish the Access to Comprehensive Genomic Profiling Coalition (ACGP)

Retrieved on: 
Tuesday, November 17, 2020

WASHINGTON, Nov. 17, 2020 /PRNewswire/ -- Seven leading diagnostics companies andlaboratory service providers have formed the Access to Comprehensive Genomic Profiling Coalition (ACGP).

Key Points: 
  • WASHINGTON, Nov. 17, 2020 /PRNewswire/ -- Seven leading diagnostics companies andlaboratory service providers have formed the Access to Comprehensive Genomic Profiling Coalition (ACGP).
  • The goal of the organization is to collectively advocate for appropriate broad U.S. health insurance coverage of comprehensive genomic profiling (CGP) for patients living with advanced cancer.
  • CGP tests assess the genomic alterations within a patient's cancer to help physicians make more informed decisions about personalized treatment approaches.
  • "There is no question that obstacles to coverage have inhibited physicians from ordering comprehensive genomic profiling," said Almas.

Sema4 Introduces “Sema4 Signal™”, a New Family of Products and Services Delivering Data-driven Precision Oncology Solutions

Retrieved on: 
Wednesday, July 8, 2020

Sema4 , a patient-centered health intelligence company, today announced the launch of Sema4 Signal, a new family of products and services providing data-driven precision oncology solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests.

Key Points: 
  • Sema4 , a patient-centered health intelligence company, today announced the launch of Sema4 Signal, a new family of products and services providing data-driven precision oncology solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests.
  • Sema4 Signal, our family of data-driven precision oncology care solutions, was designed to meet the needs of health systems, providers, patients, and payors, said Eric Schadt , PhD, Founder and Chief Executive Officer of Sema4.
  • Sema4 continues to scale up its previously launched Somatic solutions, including Sema4 Signal Whole Exome and Transcriptome Sequencing (WES and WTS) and Sema4 Signal PanCancer.
  • Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all.