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Anesthesiology

New database of more than 83000 surgical outcomes aimed at advancing research and training artificial intelligence … – UCLA Health Connect

A team of researchers from UCLA and UC Irvine have created a unique repository of electronic health record data and high-fidelity physiological waveform data from tens of thousands of surgeries that will integrate artificial intelligence to improve patient outcomes.

The project led is by Dr. Maxime Cannesson, professor and chair of anesthesiology and perioperative medicine at the David Geffen School of Medicine at UCLA; and Dr. Pierre Baldi, Distinguished Professor of information and computer sciences and Dr. Joe Rinehart, clinical professor of anesthesiology, both at UC Irvine. It is freely available to legitimate researchers who sign a data use agreement (DUA).

All data in the repository, called the Medical Informatics Operating Room Vitals and Events Repository (MOVER), has been stripped of patient identifiers in accordance with patient privacy laws. It can be downloaded athttps://doi.org/10.24432/C5VS5G

The team has published a paper describing the database and its uses in JAMIA Open.

We expect it to help the research community to develop new algorithms, new predictive tools, to improve the care of surgical patients basically globally, Cannesson said. Its the first time a surgical database like this has been released. Its a very wide spectrum of surgeries.

The repository, which had been in the works since 2012, fills a gap in publicly accessible databases that researchers can use to train and test AI algorithms.It is intended to advance a wide variety of healthcare research and serve as a resource to evaluate new clinical decision support and monitoring algorithms for patients undergoing surgery and anesthesia.

It contains data, collected over seven years, of hospital visits for patients undergoing surgery at UCI Medical Center, consisting of comprehensive electronic health record and high-fidelity physiological waveforms. Waveforms are data from monitors such as EKGs that measure the physiology of the patient either minute by minute or sometimes in real time, for instance during a high-risk surgical procedure.

Specifically, the dataset contains general information about each patient and their medical history, including details about the surgical procedure, medicines used, lines or drains utilized during the procedures, and postoperative complications. In all, it now contains data from nearly 59,000 patients who underwent about 83,500 surgeries.

This information is truly information that physicians and the care team use to make clinical decisions in the acute care setting, Cannesson said. Before this there was no single repository where a very, very large volume of data that includes the physiological waveforms are accessible to researchers.

The MOVER team took the project through a rigorous process to ensure that patient privacy is preserved.

Patient privacy has been at the forefront of the development of MOVER, Cannesson said. Its been through a lot of de-identification process. There is no patient identifier, no date of surgery. Patients above 90 years old, their age is not available. So its been through a lot of de-identification to make sure that no patient identifier is available.

There is a precedent for sharing datasets like this for patients in the intensive care unit, the largest and most widely known being MIMIC, which also includes de-identified electronic health record patient information and waveforms, he noted. Our main innovation was to start more than 10 years ago recording these waveforms during surgery, he said. This could be helpful to the whole perioperative surgical community.

At this point the focus is on sharing the UC Irvine information with qualified physicians and researchers, he said. But a National Institutes of Health initiative called Bridge to AI, of which UCLA is a part, aims to standardize this data across multiple institutions to eventually create a single repository with the same vocabulary and data architecture.

It is designed so that the data can be thoroughly checked, achieving transparency. The goal is eventually to increase the trust that clinicians and patients have with what you are going to see in the near future the development of more and more artificial intelligence-based models, especially for the surgical setting, Cannesson said.

The work was supported by the National Institutes of Health (NIH) through the National Institute of Biomedical Imaging and Bioengineering (R01EB029751).

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New database of more than 83000 surgical outcomes aimed at advancing research and training artificial intelligence ... - UCLA Health Connect

Genetics

Unlocking tree genetic diversity: advanced hyperspectral phenotyping for enhanced Scots pine selection – EurekAlert

image:

Experimental and technical design.

Credit: Plant Phenomics

Hyperspectral reflectance reveals critical leaf functional traits indicativeof a plant's physiological status, providing a powerful tool for distinguishing seedlings adapted to specific environments. Current researchexplores intrapopulation variability and the necessity of high-throughput phenotyping (HTP) in forestry for selection of resilient genotypes underchanging climatic conditions. However, challenges persist in managing large-scale phenotypic data and in the compatibility of reflectance data acquired from various measurement approaches.

In November 2023, Plant Phenomicspublished a research article entitled by Making the Genotypic Variation Visible: Hyperspectral Phenotyping in Scots Pine Seedlings.

This research utilized two non-destructive methods to measure hyperspectral reflectance on 1,788 Scots pine seedlings, distinguishing between lowland and upland ecotypes from the Czech Republic. Leaflevel measurements wereperformedwith a spectroradiometer and contact probe (CP) for biconical reflectance factor (BCRF) of needle samples, while proximal canopy measurements employed the same spectroradiometer with a fiber optical cable (OC) under natural light for hemispherical conical reflectance factor (HCRF). Results showed statistically significant differences among pine populations across the entire spectral range. Using machine learning algorithms, the proximal data predicted the different Scots pine populations with up to 83% accuracy.

Specifically, BCRF and HCRF indicated significant differences in pairwise comparisons among populations, particularly in visible (VIS) and near-infrared (NIR) regions. The most pronounced differences occurred in VIS and red edge (RE) for BCRF, while HCRF showed more variance in shortwave infrared (SWIR) regions. Both BCRF and HCRF data maintained similar trends across the very shortwave infrared (VSWIR) spectral range, with BCRF P values generally closer to zero than HCRF in many spectral intervals. Random Forest (RF) and Support Vector Machine (SVM) algorithms were employed to test the prediction accuracy of population origin based on reflectance factors. The highest accuracy was obtained from raw whole seedling HCRF. The importance of specific spectral regions for RF separation was evidenced by peaks in VIS and RE. HCRF displayed more spectral regions with high importance for RF prediction compared to BCRF, which was mainly limited to VIS and RE. This difference likely contributed to the higher prediction accuracy of RF models based on HCRF data.

The study concluded that both leaf-level BCRF and whole seedling HCRF are suitable for hyperspectral phenotyping to differentiate the phenotypic and genetic variation within Scots pine seedlings. Overall, these methods offer valuable tools for forestry and breeding programs, particularly for non-destructive genetic evaluation and effective nursery practices. Despite some limitations related to light conditions and measurement methods, the research demonstrated the potential of using hyperspectral reflectance and machine learning for accurate prediction and classification of tree populations in breeding and conservation efforts.

###

References

Authors

Jan Stejskal1*, Jaroslav epl1, Eva Neuwirthov1,3,Olusegun Olaitan Akinyemi1,2, Ji Chuchlk1, Daniel Provaznk1, Markku Keinnen2,4, Petya Campbell5,6, Jana Albrechtov3, Milan Lstibrek1, and Zuzana Lhotkov3

Affiliations

1Department of Genetics and Physiology of Forest Trees, Faculty of Forestry and Wood Sciences, Czech University of Life Sciences Prague, Prague, Czech Republic.

2Department of Environmental and Biological Sciences, University of Eastern Finland, Joensuu, Finland.

3Department of Experimental Plant Biology, Charles University, Prague, Czech Republic.

4Center for Photonic Sciences, University of Eastern Finland, Joensuu, Finland.

5Department of Geography and Environmental Sciences, University of Maryland Baltimore County, Baltimore, MD, USA.

6Biospheric Sciences Laboratory, NASA Goddard Space Flight Center, Greenbelt, MD, USA.

About Jan Stejskal

He is a researcher in the Department of Genetics and Physiology of Forest Trees at Czech University of Life Sciences Prague. The domain of Dr. Jan Stejskal is the statistical evaluation of complex experiments with the connection of physiological and genetic data. His research includes the design and evaluation of comparative experiments based on growth and physiological traits. He currently focuses on evaluating adaptive traits of selected populations (fertility, phenology, etc.) to test the usability of genetic correlations between physiological, adaptive, and production traits.

Experimental study

Not applicable

Making the Genotypic Variation Visible: Hyperspectral Phenotyping in Scots Pine Seedlings

14-Nov-2023

The authors declare that they have no competing interests.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Unlocking tree genetic diversity: advanced hyperspectral phenotyping for enhanced Scots pine selection - EurekAlert

Genetics

The Role of Genetics in Cancer Care Continues to Expand – OncLive

Susan D. Klugman, MD, FACOG, FACMG

Genetic screening and testing have been a part of clinical practice for decades. However, it is only recently that genetics has become an integral part of cancer care.

The BRCA1/2 genes were discovered in 1994 and 1995, respectively, and many other cancer predisposition genes have been identified in more recent years. People with BRCA1/2 mutations are considered to have the most common hereditary cancer syndrome, called hereditary breast and ovarian cancer syndrome (HBOC).1 The National Comprehensive Cancer Network (NCCN) provides detailed recommendations regarding cancer surveillance and risk reduction for patients with HBOC. The impact on clinical care and management was initially unknown, but research and ongoing studies have provided guidance and NCCN guidelines are updated annually.2

Up to 10% of cancers arise in those who carry an inherited gene mutation.3 This is particularly important for Black patients, as research at our Montefiore Einstein Comprehensive Cancer Center found that not only are Black patients more likely than White patients to have a specific type of colorectal cancer that has worse outcomes, but they are also more likely to have tumors with more genetic mutations that preclude them from receiving certain therapies.4

In the 1970s, Montefiore Einstein was one of the first academic medical centers to offer population carrier screening for Tay-Sachs disease, an autosomal recessive neurologic genetic disorder that results in death in early childhood.5 In the late 1990s, we participated in the first BRCA1 and BRCA2 genetic testing of more than 1000 Ashkenazi Jewish women in the New York area, which led to a pivotal paper by Mary-Claire King, PhD, published in Science in 2003.6

Lifetime risk of breast cancer among female mutation carriers was 82%, and lifetime risk of ovarian cancer was 54% for BRCA1 and 23% for BRCA2 mutation carriers. Additionally, risk appeared to increase with time: Breast cancer risk by age 50 was 24% among mutation carriers born before 1940 and was 67% among women born after 1940. This was one of the first studies to show physical exercise and lack of obesity in adolescence was associated with delayed breast cancer onset.6

As the inheritance of most cancer predisposition genes is autosomal dominant, population screening is challenging and guidelines have evolved. Additionally, there are ethical, legal, and social implications of genetic testing, especially in diverse populations.

In 1987, during my gynecologic oncology rotation as a fourth-year medical student, I participated in the care of a 65-year-old woman with ovarian cancer. Fast forward 12 years, I am a practicing obstetrician- gynecologist and I see a patient who tells me her mother was diagnosed in 1987 with ovarian cancer and had surgery at the same hospital, and during the same month that I did my acting internship. We were able to ascertain that I took care of her mother in 1987!

We then discussed the importance of BRCA1/2 testing, which was not available to her mother at the time. Today, it is standard of care to test for hereditary cancer syndromes for any patient with a first- or second-degree relative with ovarian cancer. My patient, in fact, did have a mutation or pathogenic variant in BRCA1, likely inherited from her mother.

Over the past 20-plus years, my patient has had a bilateral mastectomy with reconstruction, a bilateral salpingo-oophorectomy, and has been involved in research looking for predisposition to pancreatic cancer. She has had annual dermatologic and ophthalmologic examinations and has never had cancer. She is considered a previvor, a patient with a pathogenic variant who has never had cancer. We have reviewed and discussed the research and the clinical management of BRCA over the past 2 decades together. We have also discussed the options of in vitro fertilization and preimplantation genetic testing of embryos for her children, which would avoid hereditary cancer caused by the familial variant in future generations. This patient has also been instrumental as a resource for other previvors in their decision-making regarding proactive medical and surgical options. She has told her story at community events and is willing to talk to community members who are struggling.

At Montefiore Einstein, genetic testing started in the Department of Obstetrics and Gynecology and Womens Health, where women with ovarian cancer were treated and those with breast cancer received their gynecologic care. We used grants and appealed to companies to cover testing for our patients.

Today, screening and testing occur within the Division of Reproductive and Medical Genetics. We see adults at risk for hereditary cancer syndromes as well as those with cancer and those without, such as their family members. Each patient meets with a genetic counselor and a medical geneticist to discuss their options. Pre- and posttest counseling are critical.

There is also a discussion about insurance and out-of-pocket costs, which today are considered minimal. Additionally, I review the Genetic Information Nondiscrimination Act of 2008 with patients, which does not protect their genetic information if they apply for life and long-term disability insurance. It is critical that this specialty is experienced as comprehensive clinical care. As such, our genetics program is also embedded in our new breast cancer center, which we designed to be a singular location for breast health, advancing our ability to deliver the most personalized care to our patients.

At Montefiore Einstein and across the country, 2013 was a pivotal year for genetic testing in cancer care. Angelina Jolie wrote an editorial in The New York Times discussing her BRCA1 status and revealed that she voluntarily had a prophylactic mastectomy. Genetic testing often has a stigma, and Jolie helped others realize that genetic testing was crucial, offering many benefits.7

Jolies family history was significant, and a pathogenic variant was found. However, a pathogenic variant was not found for many families that had significant breast and ovarian cancer, signaling there may be other genetic mutations not yet accounted for. In 2015, panel testing for hereditary cancer syndromes expanded to involve many genes, such as PALB2, CHEK2, and ATM, and others involved in Lynch syndrome; but again, these new tests were not always covered by insurance. Over the past 8 years, we have seen that many of these genes can be actionable clinically and because of this change in management and the possibility of improved health care outcomes, insurance coverage is almost always available.

Genetic testing is now an integral part of cancer care, partly due to the Precision Medicine Initiative launched by former President Barack Obama and the National Institutes of Health, which aims to understand how a persons genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease. Despite these great strides, at the national level, we continue to see a significant number of individuals who should be offered genetic testing but never get it. Lack of knowledge about genetic testing among professionals and patients alike contribute to this trend. At Montefiore Einstein, members of our division are participating in seminars, grand rounds, and lectures to educate patient and physicians in hopes of overcoming the misconceptions and fears associated with genetic testing in our communities.

In 2017, we conducted a study at Montefiore Einstein that asked patients about their perceived cancer risk. We found that more than 30% of patients had a mother with breast cancer did not think that they were high risk. Moreover, more than 30% of patients deemed high risk were never offered genetic screening or testing from a health care professional. This is an issue I have witnessed in my practice.8

I recently saw a 36-year-old patient with colon cancer. The father of my patient had kidney cancer and the grandmother had uterine cancer, both at young ages. No one had discussed the possibility of a hereditary cancer syndrome with this patient.

Montefiore Einstein genetic counselors and genetic physicians help our patients understand the advantages of genetic testing and the clinical actionability. We have found that this team approach works very well. We also encourage patients to inform their family members for their own well-being and future generations; however, we sometimes find they are not available or willing.

We conduct germline genetic testing as well as somatic testing. The outcomes of both tests affect clinical management and recruitment for clinical trials. Research is ongoing to analyze the correlation of somatic testing with germline genetic testing.

We have a long way to go to educate our community, including patients and health care professionals, on the value of genetic consultation and testing when there is any family history of cancer.

The research we conduct where we practice in the Bronx and Westchester, New York, is critical for advancing literature and clinical practice because our population is incredibly diverse. Many people in our population are hesitant to undergo genetic testing as there is an underlying distrust likely stemming from historical events, which is why it is important for members of the medical community to advocate on behalf of their patients. Ongoing research regarding quality improvement initiatives for screening and prevention as well as adherence to guidelines recommended preventive care will help address these issues.

When Einstein clinicians went door-to-door testing for Tay-Sachs disease in the 1970s, they used the adage knowledge is power. We use that same adage today and hope that our cancer genetic testing helps save lives.

Susan D. Klugman, MD, FACOG, FACMG, is program director of Medical Genetics and Genomics, director of Reproductive and Medical Genetics, and professor of obstetrics and gynecology, women's health, and pediatrics at Montefiore Health System & Albert Einstein College of Medicine in Bronx, New York. She is also president of the American College of Medical Genetics and Genomics.

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The Role of Genetics in Cancer Care Continues to Expand - OncLive

Genetics

Family faces multiple diagnoses for genetic condition NF1 – Sanford Health News

Theres a genetic condition which can start with simple birthmarks that one Sioux Falls, South Dakota, family knows well.

Its called neurofibromatosis type one or NF1 and it is a disorder that can cause tumor growth, vision problems and skin changes.

Rachel Li, M.D., specializes in clinical and pediatric genetics at Sanford Childrens.

Find pediatric specialists: Family-focused care at Sanford Childrens

It can begin with the development of caf au lait spots, which are brown birth marks across the skin.

Dr. Li said tumors can grow underneath the skin and along nerves, including the optic nerve in the brain.

A majority of the time, the tumors are not cancerous, Dr. Li told Sanford Health News. But when were talking about brain tumors, theres only so much space in there so we monitor those very closely. And then we can start treatment with medications if we start noticing changes associated with that.

She said while all genetic disorders are rare, NF1 affects 1 in around 3,000 to 4,000 patients.

Fifty percent of the time its a new finding in a family or patient without family history, and the other 50% its inherited from a parent or relative, she added.

Candice Hazel and Roland Marshalls youngest, Logan, had some unique birthmarks which led to a diagnosis in 2022.

But that diagnosis was just the beginning.

When I met Roland, he had four girls, Hazel explained. One of the girls had a lot of caf au lait spots and he said she was diagnosed with neurofibromatosis.

Coincidentally, Hazel was already receiving care for McCune-Albright syndrome which is associated with caf au lait birthmarks.

So when she and Roland noticed her son Logans birthmarks, she contacted her provider at Sanford Health, and the entire family of seven underwent genetic testing.

The results showed Logan, his dad Roland, and two half-sisters were all living with NF1.

Those with NF1 can have variable features or different symptoms, even with the same genetic change.

Its been a whirlwind with a lot of emotion and worry, especially with the risk for tumors and optic issues. As a parent, its scary, Hazel said. Were very lucky to have someone close to home who specializes in NF1 and who makes you feel comfortable.

In most cases, a pediatrician or other primary care provider can notice the first signs of the condition in a patients birthmarks.

Dr. Li said the clinical criteria includes two or more features but patients are evaluated with just one, including certain freckling on the arms or in the groin.

From there, the primary care provider can refer the patient and family to the genetics team and begin testing.

But its not always caught right away when a patient is young.

Its not uncommon for us to find a patient with NF1 but then Mom or Dad also has it, and we determine during a visit that the adult gets certain screenings and plugged in for care as well, Dr. Li said.

If a patient undergoes testing or meets clinical criteria for a diagnosis, they can be enrolled into the NF1 clinic.

Since 2022, the neurocutaneous clinic has been available for Sanford Health patients as the only multidisciplinary clinic in the Midwest for this rare genetic diagnosis.

We noticed there was a gap in care for our patients, Dr. Li said. They were all going to Mayo or Colorado, hours and hours away. We had all the services here available. So, we got together and said, I think we can start this clinic.

Theres definitely a large population of people who are really benefiting from getting all the care.

The Marshall family was among the first to participate in the clinic.

Logan was seen every six months early on and now everyone is seen once per year, Hazel explained. Its really helpful and convenient for us to have one place for our kids to get their care.

The clinic for patients with NF1, NF2 and tuberous sclerosis is a one-stop-shop for patients to see multiple providers with specialties in genetics, neurology, hematology and oncology, pediatric development, ophthalmology, as well as speech, physical and occupational therapies.

Theyre such a great family as far as just really following through with what needs to be done, making sure theyre getting their girls plugged in as much as possible, getting help with some of the school things that theyve come up with and seeing Logan grow up living his best life now, Dr. Li said.

The physicians and providers are so collaborative, and I think thats a really unique thing to find. Everyone is here to focus on what is best for patient care and for children. If that means creating an entirely new clinic for families, thats something theyre going to go forward and do. Its been a huge, huge benefit.

Posted In Children's, Genetics, Sioux Falls, Specialty Care

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Family faces multiple diagnoses for genetic condition NF1 - Sanford Health News

Genetics

Unique gene variants tied to glaucoma found in Black patients – Livescience.com

Scientists have uncovered two gene variants tied to the most common form of glaucoma by studying the population most affected by the blinding disease: People of African ancestry.

Primary open-angle glaucoma (POAG) occurs when the structure that normally drains fluid from the eye doesn't work properly. As a result, fluid builds up and damages the optic nerve, gradually leading to vision loss and potentially blindness, in severe cases. People of African ancestry have around a four to five times greater risk of experiencing POAG than those of European descent. They're also more likely to develop severe vision problems from the disease, due in part to the condition manifesting at earlier ages, on average, than is seen in those with European ancestry.

Having a family history of glaucoma is a major risk factor for the disease, meaning genetics play an influential role. Previous studies pinpointed more than 170 hotspots in the genome that may fuel glaucoma but most of the people in those studies were of European or Asian descent.

In the new study, published Thursday (Jan. 18) in the journal Cell, researchers looked for glaucoma-related genes in the DNA of nearly 11,300 people of African descent, then confirmed the genetic risk factors in four other large datasets. To the researchers' knowledge, this is the largest study to date on the genetics of glaucoma in people of African ancestry, said senior study author Dr. Joan O'Brien, director of the Penn Medicine Center for Genetics of Complex Disease.

Related: Weird 'gut-eye axis' links the retina and intestines, and may help explain glaucoma

"It's a very important study," said Dr. Terri Young, chair of the Department of Ophthalmology and Visual Sciences at the University of Wisconsin-Madison, who was not involved in the research. The study was well-designed and generated robust data, she told Live Science.

It is also the first comprehensive look at a demographic that's commonly excluded from genetics research but is most affected by this hereditary disease.

"That really has not been done before," Young said. "These clinicians and the patients should really be applauded."

A large portion of the study participants were enrolled through a multiyear genetics study in the greater Philadelphia area. The researchers found that partnering with a trusted Black-owned radio station WURD Radio helped spur enrollment. Surveyed participants often reported initial reservations about participating, due to past and current racial discrimination in the medical field. But they said they were motivated to enroll in order to access glaucoma specialists and to help improve health outcomes for other members of their community.

The team combined data from these Philadelphia residents with that of Black people from other states, as well as Africans from Nigeria and Ghana. In all, this initial dataset included more than 6,000 people with glaucoma and about 5,270 people without, for comparison. The analysis turned up 46 regions of the genome linked to POAG.

The researchers then checked their results by looking at genetic data from thousands of additional people of African ancestry, as well as data from people of European or Asian descent. In these analyses, three gene variants popped up as being the most important for POAG in people of African ancestry.

"Two of those were entirely novel," meaning they'd never been linked to glaucoma before, O'Brien told Live Science.

The researchers ran some early experiments to start to unravel how these genes affect the eye's function or structure, but on that front, there's more work to do, Young said. Future work could probe the function of these genes in different tissues of the eye in lab dishes, as well as in animal models of glaucoma, she said.

The researchers also developed genetic "risk scores" intended to flag people with raised odds of developing glaucoma. They trained one risk score-generator on data from people of African ancestry and another on people of European ancestry compared with the latter, the former was much more accurate at predicting when a person of African descent had glaucoma.

In the future, risk scores like these could help pinpoint which patients need to initiate or adjust their monitoring or treatment plans for glaucoma, ensuring they get treated promptly if they do develop the disease, Young said. Better understanding the genetic profile of people with glaucoma could also lead to better, more-tailored treatments, she added.

POAG often leads to elevated pressure inside the eye, which can damage the optic nerve. Current treatments, such as eye drops and surgery, are aimed at relieving that pressure, but some people still lose their sight after starting treatment. Plus, some people with POAG have normal eye pressure but still lose vision.

"So pressure alone is our only treatment, but pressure alone is not sufficient to address the problems associated with this disease," O'Brien told Live Science. The new genetic study helps lay the groundwork for scientists to uncover new glaucoma treatments.

Editor's note: This article was updated at 1:30 p.m. on Jan. 18, 2024 to clarify a quote from Dr. Terri Young.

This article is for informational purposes only and is not meant to offer medical advice.

Ever wonder why some people build muscle more easily than others or why freckles come out in the sun? Send us your questions about how the human body works to community@livescience.com with the subject line "Health Desk Q," and you may see your question answered on the website!

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Unique gene variants tied to glaucoma found in Black patients - Livescience.com

Genetics

Myriad Genetics to Acquire Precise Tumor, Precise Liquid and Laboratory from Intermountain Precision Genomics – GlobeNewswire

SALT LAKE CITY, Jan. 18, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced it has entered into a definitive agreement to acquire select assets from Intermountain Precision Genomics (IPG) laboratory business, including the Precise Tumor Test, the Precise Liquid Test, and IPGs CLIA-certified laboratory in St. George, Utah where the Precise Tumor Test is currently performed.

The acquisition is expected to close on February 1, 2024, subject to customary closing conditions. By bringing the Precise Tumor and Precise Liquid tests in house, Myriad will open up new opportunities for innovation, growth, and continued development of its oncology portfolio.

With this acquisition, were deepening our commitment to our oncology business while also generating a more effective way to scale and grow our tumor profiling and liquid biopsy tests, including operational efficiencies, reimbursement benefits and new clinical development opportunities, said Paul J. Diaz, president and CEO, Myriad Genetics. Wed like to thank our longstanding partners at Intermountain Healthcare for the important progress theyve made in advancing precision oncology care. We look forward to continuing to build on this foundation to provide comprehensive genomic profiling options to the Intermountain Health System and its patients and providers that can help guide clinical care and improve patient outcomes.

Myriads Precise Tumor Test, which is also offered by IPG as TheraMap: Solid Tumor, analyzes a patients tumor DNA to discover and target important variants within tumors. The 500+ gene panel looks at both DNA and RNA to match patients with advanced solid tumors to the right therapy as well as identifying eligibility for clinical trials. Upon the closing of the acquisition on February 1, 2024, Myriad expects to operate TheraMap: Solid Tumor solely as Precise Tumor.

Precise Liquid, which is expected to launch later this year, will provide convenient comprehensive genomic profiling results from a blood draw. IPG has completed all validation studies to support the local coverage determination (LCD) for Precise Liquid and submitted clinical evidence of test performance in December 2023 for Medicare reimbursement.

The financial terms of the deal were not disclosed but are not material to either Myriad or Intermountain Healthcare.

About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit http://www.myriad.com.

Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including that the acquisition is expected to close on February 1, 2024, statements relating to the expected benefits of the acquisition, including that it will open up new opportunities for innovation, growth, and continued development of the company's oncology portfolio, that the company expects to operate TheraMap: Solid Tumor as Precise Tumor upon the closing of the acquisition, and that Precise Liquid is expected to launch later this year. These forward-looking statements are managements expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such risks and uncertainties include, but are not limited to, the risk that a condition to closing of the proposed transaction may not be satisfied; that either party may terminate the definitive agreement or that the closing of the proposed transaction may be delayed or not occur at all; potential adverse reactions or changes to business or employee relationships, including those resulting from the announcement or consummation of the proposed transaction; and such other risks described in the companys filings with the U.S. Securities and Exchange Commission, including the companys Annual Report on Form 10-K filed on March 1, 2023, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.

Investor Contact Matt Scalo (801) 584-3532 IR@myriad.com

Media Contact Glenn Farrell (385) 318-3718 PR@myriad.com

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Myriad Genetics to Acquire Precise Tumor, Precise Liquid and Laboratory from Intermountain Precision Genomics - GlobeNewswire

Genetics

Reflections on the Idea of Social and Behavioral Genetics – The Hastings Center

Basic research is ongoing into the genomics of complex human behaviors and social outcomes, from eating and sexual behaviors to subjective sense of well-being and educational attainment. Although the people doing this research may work hard to articulate their benevolent intentions as well as seeking to conduct rigorous, reproducible, ethical research, they do so against the history of pseudoscience, eugenics, and scientific racism. In this seminar, our expert panel will share insights regarding the potential risks and benefits of such research: Will investigations of associations between genetic differences and observed differences in behaviors and social outcomes exacerbateor help to underminegenetic determinism? How can behavioral and social genomics research community and the neurodiversity and disability justice movements learn from each other? Can the polygenic scores created by behavioral and social geneticists be of any real use to improve clinical or social science research? To what extent, if any, is behavioral and social genetics research relevant to discussions of using CRISPR to enhance moral and cognitive behavior? To explore these questions, we are delighted to be joined by:

If you are interested in joining, please send an email tooliver.feeney@uni-tuebingen.de

Moderated by: Dr Oliver Feeney, Ethics of Genome Editing Research Unit, Institute of Ethics and History of Medicine, University of Tbingen, Germany.

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Reflections on the Idea of Social and Behavioral Genetics - The Hastings Center

Genetics

Building trust and saving lives: A community approach to genetic education – Medical University of South Carolina

Changes to DNA, known as mutations, can increase the likelihood of developing cancer. Specifically, people with mutations in their BRCA 1 and 2 genes are substantially more likely to develop hereditary breast and ovarian cancers. But how do people know if they have these mutations?

Genetic testing.

Genetic testing allows doctors to see these microscopic changes. Knowing these mutations exist, doctors will check for signs of breast and ovarian cancers more often.

Yet minorities, especially Black women, are less likely to participate in genetic testing. Even fewer engage in follow-up services, such as recommended interventions, which reduce risk.

To change that, a team of researchers at the Medical University of South Carolina led by Caitlin G. Allen, Ph.D., plans to teach community health workers (CHWs), who often reside in the communities they serve, how to share the importance of genetic screening with their peers. Allen is an assistant professor in the Department of Public Health Sciences at MUSC.

Community health workers act as a bridge between the community and researchers and clinicians and can help to answer questions, provide support services and address a lot of social determinants of health issues, said Allen, who has spent more than a decade working alongside and providing support for CHWs.

-- Dr. Caitlin Allen

As a first step, the team worked with CHWs to learn about their needs and preferences for genetics training materials. They describe these efforts in a November article in the Journal of Cancer Education.

Knowing that some minority communities dont trust researchers and medical staff, Allen and her team recruited CHWs because they are already trusted members of the community. The researchers found that CHWs were already very curious about genetics and eager to learn more.

There was significant interest from CHWs to learn more about cancer and genetics, but the training to support them in building these competencies and genetic literacy didnt exist, explained Allen.

With funding from the American Cancer Society and MUSC Hollings Cancer Center, Allen and her team were able to create this training by holding focus groups with CHWs and doctors, asking them to come to an agreement about which lessons should be included. Once the training materials were developed, the CHWs told the researchers whether they were clear and easy to understand.

Incorporating feedback from these focus groups, Allen and her team finalized their 10-module CHW training called Keeping Each other Engaged Program via IT (KEEP IT). The researchers virtually delivered the 12-hour training to 26 CHWs. The training was effective in improving genetic knowledge and competencies and highly rated by the CHWs. The full outcomes of the KEEP IT training sessions will be published soon.

It was a privilege to take the idea of CHWs teaching their communities about genetics and put it into action, said Allen.

But the researchers are far from being finished. They are applying for funding so they can expand the training across four other Southern states.

Designing and delivering trainings in collaboration with community members is really effective, stressed Allen, and its important to have community perspective across all research.

Reference

Allen CG, Hatch A, Qanungo S, Ford M, Marrison ST, Umemba Q. Development of a Hereditary Breast and Ovarian Cancer and Genetics Curriculum for Community Health Workers: KEEP IT (Keeping Each other Engaged Program via IT) Community Health Worker Training. J Cancer Educ. 2023 Nov 3. doi: 10.1007/s13187-023-02377-7. Epub ahead of print. PMID: 37919623.

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Building trust and saving lives: A community approach to genetic education - Medical University of South Carolina

Genetics

SOPHiA GENETICS and Karkinos Healthcare Forge Strategic Partnership to Advance Cancer Research in India India … – PR Newswire

SOPHiA GENETICS technology helps advance cancer research across India

SOPHiA GENETICS and Karkinos Healthcare join forces to propel cutting-edge genomic solutions for breakthroughs in personalized cancer care in India

BOSTON andROLLE, Switzerland, Jan. 14, 2024 /PRNewswire/ --SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company and a leader in data-driven medicine, today announced that Karkinos Healthcare, a purpose-driven cancer care technology network based in India, will partner with SOPHiA GENETICS and adopt the SOPHiA DDM Platform to advance cancer testing and research for blood cancers and solid tumors to underserved areas in low and middle-income countries.

Karkinos Healthcare is a purpose-driven, technology-led oncology platform, focused on early detection, advanced diagnostics, and treatment delivery of common cancers, using its Distributed Cancer Care Network across India. Karkinos Healthcare provides end-to-end solutions for oncology ecosystem, including disease screening, diagnosis,surgery, chemotherapy, radiotherapy andcomprehensive patient navigation through the care continuum, in addition to operating advanced research and development laboratories. The company is on a mission to create 'Community as a Cancer Centre' with an endeavour to serve one million patients annually byaddressing the accessibility andaffordability gaps in cancer care through a digitally curated hub and spoke and further spoke model, and not restrict cancer care to comprehensive centres alone.

"It is our continued goal to improve health outcomes for patients globally by expanding access to precision oncology and equipping local health institutions with the tools and technology needed to practice data-driven medicine," said Dr. Jurgi Camblong, CEO and Co-founder, SOPHiA GENETICS. "By aligning with Karkinos, who share the mutual goal, we can help increase the use of best-in-class cancer testing for rural and underserved communities around the world."

On this strategic partnership, Dr. R Venkataramanan, Founder and CEO, Karkinos Healthcaresaid, "Through collaborative research initiatives, Karkinos Healthcare aims to address the comprehensive genomic landscape identification for Indian population, with a focus on precision medicine. This alliance will have the potential to generate evidence and world-class research for faster and accurate diagnosis and better control and management of cancers, particularly for the underprivileged population of our country."

The SOPHiA DDM Platform is designed to compute a wide array of genomic variants and continually hone machine learning algorithms to detect rare and challenging cases. Karkinos Healthcare will use SOPHiA GENETICS' technology to expand its offerings, advance research and streamline workflow for a variety of blood cancers, including Myeloid cancer and Lymphoma. In addition, the company will analyse solid tumours for a variety of cancer types including ovarian, prostate, breast, pancreas, lung, colorectal, skin, and brain cancers.

The SOPHiA DDM Platform offers tailored NGS-based workflows to streamline processes from sample to report to accelerate analysis. By using the SOPHiA DDM Platform, researchers from Karkinos Healthcare will quickly obtain high-quality and reproducible data that will ultimately accelerate clinical research studies and advance the use of precision medicine.

About SOPHiA GENETICS SOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM Platform and related solutions, products and services are currently used by a broad network of hospital, laboratory, and biopharma institutions globally. For more information, visitSOPHiAGENETICS.COM, or connect onX,LinkedIn,Facebook, andInstagram.Where others see data, we see answers.

Product DisclaimerSOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures, unless specified otherwise. The information in this press release is about products that may or may not be available in different countries and, if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact [emailprotected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS: Forward-Looking StatementThis press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management's beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

About Karkinos HealthcareKarkinos Healthcare is a purpose driven technology-led oncology health care platform for early detection and diagnosis of common cancers. The organisation espouses use of a distributed cancer care network, while working with a network of healthcare institutions and domain experts within the ecosystem, with an aim to provide comprehensive cancer care closer to individuals' homes.

Tata Group, Reliance Industries, Mayo Clinic, and Rakuten Medical Inc. are among the World's leading organizations that have invested in Karkinos Healthcare. The company has also partnered with Tata Memorial Hospital, Guys and St Thomas NHS Foundation Trust (UK), and has inked several research collaborations with leading academic institutions in the United States to stay on the cutting edge of oncology treatment and care.To learn more, visit https://www.karkinos.in/about-us/

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SOPHiA GENETICS and Karkinos Healthcare Forge Strategic Partnership to Advance Cancer Research in India India ... - PR Newswire