Monthly Archives: September 2022

Neuroscience

Repeated Concussions Can Thicken the Skull – Neuroscience News

Summary: Repeat concussions thicken the structure of skull bones. Researchers theorize the thickening of the skull may occur as the body attempts to better protect the brain from subsequent damage.

Source: Monash University

New research has found that repeated concussions can thicken the structure of skull bones. Previous studies have shown damage to the brain following concussion, but have not looked at the brains protective covering.

A Monash-led study published in the journalScientific Reportsby Associate Professor Bridgette Semple from the Monash Universitys Central Clinical School Department of Neuroscience, found that repeated concussions resulted in thicker, denser bones in the skull.

It is unclear whether this thickening of the skull is a good thing or a bad thing. In theory, a thicker skull is a stronger skull, suggesting that this may be the bones attempt to protect the brain from subsequent impacts.

This is a bit of a conundrum, Associate Professor Semple said. As we know, repeated concussions can have negative consequences forbrain structureand function. Regardless, concussion is never a good thing.

The team hopes that the microstructural skull alterations caused byconcussionare now considered by researchers in the field to better understand how concussions affect the whole body.

Concussion is a form of mild traumatic brain injury, and repeated concussions have been linked to long-term neurological consequences.

Most studies focus on understanding how thesehead injuriesaffect the brain and its functionbut they largely ignore the overlying skull bones that protect the brain.

Although bones are considered a mostly structural component of the human body, bones are in fact active living tissues that can respond to applied mechanical forces.

Study collaborator Professor Melinda Fitzgerald, from Curtin University and the Perron Institute in Western Australia, has previously shown that repeated concussive impacts lead to subtle problems with memory, and evidence of brain damage.

In this new study, high-resolution neuroimaging and tissue staining techniques were used in a pre-clinical model, and revealed an increase in bone thickness and density, in close proximity to the site of injury.

We have been ignoring the potential influence of the skull in how concussive impacts can affect the brain, Associate Professor Semple said.

These new findings highlight that the skull may be an important factor that affects the consequences of repeated concussions for individuals.

Future studies are planned, with collaborator and bone expert Professor Natalie Sims from St Vincents Institute of Medical Research in Melbourne, to understand if a thickened skull resulting from repeated concussions alters the transmission of impact force through theskulland into the vulnerablebraintissue underneath.

Author: Press OfficeSource: Monash UniversityContact: Press Office Monash UniversityImage: The image is in the public domain

Original Research: Open access.Localized, time-dependent responses of rat cranial bone to repeated mild traumatic brain injuries by Larissa K. Dill et al. Scientific Reports

Abstract

Localized, time-dependent responses of rat cranial bone to repeated mild traumatic brain injuries

While it is well-established that bone responds dynamically to mechanical loading, the effects of mild traumatic brain injury (mTBI) on cranial bone composition are unclear.

We hypothesized that repeated mTBI (rmTBI) would change the microstructure of cranial bones, without gross skull fractures.

To address this, young adult female Piebald Viral Glaxo rats received sham, 1, 2or 3closed-head mTBIs delivered at 24h intervals, using a weight-drop device custom-built for reproducible impact.

Skull bones were collected at 2 or 10weeks after the final injury/sham procedure, imaged by micro computed tomography and analyzed at predetermined regions of interest. In the interparietal bone, proximal to the injury site, modest increases in bone thickness were observed at 2weeks, particularly following 2and 3mTBI.

By 10weeks, 2mTBI induced a robust increase in the volume and thickness of the interparietal bone, alongside a corresponding decrease in the volume of marrow cavities in the diplo region. In contrast, neither parietal nor frontal skull samples were affected by rmTBI.

Our findings demonstrate time- and location-dependent effects of rmTBI on cranial bone structure, highlighting a need to consider microstructural alterations to cranial bone when assessing the consequences of rmTBI.

See the original post:
Repeated Concussions Can Thicken the Skull - Neuroscience News

Genetics

Hereford Genetics Sustain Through the Dry Season – Beef Magazine

Summer droughts. Limited resources. Only the most resilient cattle make it through such harsh challenges. Roy Lee Criswell of Pep, New Mexico trusts Hereford-cross cattle to do it best.

"These Hereford Bulls on these black cows, getting that F1 cross, is putting more feed efficiency along with more hybrid vigor into these calves," Criswell says. "The longevity of these bulls is in their feet. They don't break down. Out here in this desert country, they've got to have good feet to be able to travel. Getting on top of these cows and coming off on these rocks, we need these bulls to keep going. We dont want them to need a lot of feed to get them to breed back."

In the Southwest, where rainfall is scarce and feed costs are climbing, ranchers and feeders prefer calves that gain weight more efficiently, like Criswells F1 cross cattle.

"At the end of the day, the yield grades are a lot higher, which is more beneficial to our pocket and our feeding operation at the yard," says Chris Adkins of Adkins Cattle Co. "When you get higher yields and better quality carcasses, you get dividends. Here we are, seven months later and theyre weighing 1,350 and 1,400 pounds. Thats whats fun when you drive by their pens every morning and see the growth in them."

Black baldy cows consume two pounds less of voluntary forage intake per day than straight-bred black cows. That's according to an Oklahoma State University study that shows a $50 savings per cow, per year.

"Theyre the easiest to work with, the easiest to get on feed, and theyre probably some of the best converting cattle," Adkins says. "And if you can keep them calm and laying down, especially in times like these where its 101 degrees, theyre just going to continue to convert feed and gain. And man, it pays on the back end."

Source: Hereford genetics,who is solely responsible for the information provided and is wholly owned by the source. Informa Business Media and all itssubsidiaries are not responsible for any of the content contained in this information asset.

Read more:
Hereford Genetics Sustain Through the Dry Season - Beef Magazine

Genetics

Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals |…

Lakhani NS, Weir J, Allford A, Kai J, Barwell JG. Could triaging family history of cancer during palliative care enable earlier genetic counseling intervention? J Palliat Med. 2013;16:13505.

Article Google Scholar

Cohen PA, Nichols CB, Schofield L, Van Der Werf S, Pachter N. Impact of clinical genetics attendance at a gynecologic oncology tumor board on referrals for genetic counseling and BRCA mutation testing. Int J Gynecologic Cancer. 2016;26:8927.

Article Google Scholar

Forbes Shepherd R, Werner-Lin A, Keogh LA, Delatycki MB, Forrest LE. I need to know if Im going to die young: Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome. J Psychosoc Oncol. 2021;39:5473.

Article Google Scholar

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA . 2017;317:240216.

CAS Article Google Scholar

White S, Jacobs C, Phillips J. Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet Med. 2020;22:114955.

Article Google Scholar

Human Genetics Society of Australasia. Code of Ethics for Genetic Counsellors 2022. Available from: http://www.hgsa.org.au/documents/item/9589.

Solimine J. Genetic testing after a terminal diagnosis-providing purpose. JAMA Oncol. 2019;5:9367.

Article Google Scholar

Rushton G, Rushton C, Francomano C, Kolodner K, Bernhardt BA. Genetics professionals experiences with grief and loss: implications for support and training. Clin Genet. 2010;77:4219.

Article Google Scholar

Hallowell N, Wright S, Stirling D, Gourley C, Young O, Porteous M. Moving into the mainstream: Healthcare professionals views of implementing treatment focussed genetic testing in breast cancer care. Fam Cancer. 2019;18:293301.

Article Google Scholar

Tutty E, Horsley P, Forbes Shepherd R, Forrest LE. The art and science of recruitment to a cancer rapid autopsy programme: a qualitative study exploring patient and clinician experiences. Palliat Med. 2020;35:43746.

Article Google Scholar

Dragojlovic N, Borle K, Kopac N, Ellis U, Birch P, Adam S, et al. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med. 2020;22:143749.

Article Google Scholar

Middleton A, Marks P, Bruce A, Protheroe-Davies LK, King C, Claber O, et al. The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors. Eur J Hum Genet. 2017;25:65961.

Article Google Scholar

Quillin JM, Emidio O, Ma B, Bailey L, Smith TJ, Kang IG, et al. High-Risk Palliative Care Patients Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking. J Genet Couns. 2018;27:83443.

Article Google Scholar

Abusamaan MS, Quillin JM, Owodunni O, Emidio O, Kang IG, Yu B, et al. The role of palliative medicine in assessing hereditary cancer risk. Am J Hosp Palliat Med. 2018;35:14907.

Article Google Scholar

White S, Phillips J, Turbitt E, Jacobs C. Views and experiences of palliative care clinicians in addressing genetics with individuals and families: a qualitative study. Supportive Care Cancer. 2022;30:161524.

Article Google Scholar

Cleophat JE, Pelletier S, Joly Y, Gagnon P, Dry A, Marin A, et al. Addressing cancer family history at the end of life: How frequent, relevant, and feasible is it? A survey of palliative care providers. Palliat Med. 2019;33:8568.

Article Google Scholar

Skivington K, Matthews L, Simpson SA, Craig P, Baird J, Blazeby JM, et al. A new framework for developing and evaluating complex interventions: update of Medical Research Council guidance. BMJ . 2021;374:n2061.

Article Google Scholar

Thorne SE. Interpretive description: Qualitative research for applied practice. 2nd ed. New York, NY: Routledge; 2016.

Creswell JW, Creswell JD. Research design: qualitative, quantitative, and mixed methods approaches. 5th ed. Thousand Oaks, California: SGE Publications; 2018.

World Health Organization. Innovative care for chronic conditions: Building blocks for action. Geneva, Switzerland: Noncommunicable Diseases and Mental Health, World Health Organization; 2002.

Zoom Video Communications. Zoom 2020 [cited 2020 19th November]. Available from: https://zoom.us/.

Liamputtong P. Focus group methodology and practical considerations. Focus Group Methodology; Principles and practice London: SAGE; 2011. p. 5070.

Krueger RA. Designing and conducting focus group interviews 2002 [cited 2021 14th January]. Available from: https://www.eiu.edu/ihec/Krueger-FocusGroupInterviews.pdf.

Braun V, Clarke V. To saturate or not to saturate? Questioning data saturation as a useful concept for thematic analysis and sample-size rationales. Qualitative Res Sport Exerc Health. 2019;13:20116.

Article Google Scholar

QSR International. NVivo V12 2020. Available from: https://www.qsrinternational.com/nvivo-qualitative-data-analysis-software/home.

Braun V, Clarke V. Thematic Analysis. In: Lyons E, Coyle A, editors. Analysing qualitative data in psychology. 3rd ed. London, UK: SAGE Publishing; 2021. p. 12847.

Oliver P. The Idea of Research. 2010 2022/04/07. In: Understanding the Research Process [Internet]. London: SAGE Publications Ltd; [12-3]. Available from: https://methods.sagepub.com/book/understanding-the-research-process.

Mendes , Metcalfe A, Paneque M, Sousa L, Clarke AJ, Sequeiros J. Communication of Information about Genetic Risks: Putting Families at the Center. Fam Process. 2018;57:83646.

Article Google Scholar

Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018;72:66280.

Article Google Scholar

Kohler JN, Turbitt E, Lewis KL, Wilfond BS, Jamal L, Peay HL, et al. Defining personal utility in genomics: A Delphi study. Clin Genet. 2017;92:2907.

CAS Article Google Scholar

ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17:5057.

Article Google Scholar

Gmez-Vrseda C, de Maeseneer Y, Gastmans C. Relational autonomy: what does it mean and how is it used in end-of-life care? A systematic review of argument-based ethics literature. BMC Med Ethics. 2019;20:76.

Article Google Scholar

Jamal L, Schupmann W, Berkman BE. An ethical framework for genetic counseling in the genomic era. J Genet Counseling. 2020;29:71827.

Article Google Scholar

Ryan J, Virani A, Austin JC. Ethical issues associated with genetic counseling in the context of adolescent psychiatry. Appl Transl Genomics. 2015;5:239.

Article Google Scholar

Kokorelias KM, Gignac MAM, Naglie G, Cameron JI. Towards a universal model of family centered care: a scoping review. BMC Health Serv Res. 2019;19:564.

Article Google Scholar

Ho A. Taking family-centered care seriously. Am J Bioeth. 2020;20:657.

CAS Article Google Scholar

Morrow A, Jacobs C, Best M, Greening S, Tucker K. Genetics in palliative oncology: a missing agenda? A review of the literature and future directions. Supportive Care Cancer. 2018;26:72130.

Article Google Scholar

Cho HL, Grady C, Tarzian A, Povar G, Mangal J, Danis M. Patient and Family Descriptions of Ethical Concerns. Am J Bioeth. 2020;20:5264.

Article Google Scholar

Lillie AK, Clifford C, Metcalfe A. Caring for families with a family history of cancer: why concerns about genetic predisposition are missing from the palliative agenda. Palliat Med. 2010;25:11724.

Article Google Scholar

Saulnier K, Cina M, Chan B, Pelletier S, Dorval M, Joly Y. Communication of genetic information in the palliative care context: Ethical and legal issues. Med Law Int. 2018;18:21940.

Article Google Scholar

Dickert NW, Eyal N, Goldkind SF, Grady C, Joffe S, Lo B, et al. Reframing consent for clinical research: a function-based approach. Am J Bioeth. 2017;17:311.

Article Google Scholar

Roeland EJ, Dullea AD, Hagmann CH, Madlensky L. Addressing hereditary cancer risk at the end of life. J Oncol Pr. 2017;13:e851e6.

Article Google Scholar

Cleophat JE, Marin A, Pelletier S, Joly Y, Gagnon P, Dry A, et al. What do cancer patients relatives think about addressing cancer family history and performing genetic testing in palliative care? Eur J Hum Genet. 2019:19.

Metcalfe A, Pumphrey R, Clifford C. Hospice nurses and genetics: implications for end-of-life care. J Clin Nurs. 2010;19:192207.

Article Google Scholar

Gonthier C, Pelletier S, Gagnon P, Marin A, Chiquette J, Gagnon B, et al. Issues related to family history of cancer at the end of life: a palliative care providers survey. Fam Cancer. 2018;17:3037.

Article Google Scholar

Quillin JM, Bodurtha JN, Siminoff LA, Smith TJ. Physicians current practices and opportunities for DNA banking of dying patients with cancer. J Oncol Pr. 2011;7:1837.

Article Google Scholar

Crellin E, McClaren B, Nisselle A, Best S, Gaff C, Metcalfe S. Preparing medical specialists to practice genomic medicine: education an essential part of a broader strategy. Front Genet. 2019;10:789.

Article Google Scholar

Regier DA, Weymann D, Buchanan J, Marshall DA, Wordsworth S. Valuation of health and nonhealth outcomes from next-generation sequencing: approaches, challenges, and solutions. Value Health. 2018;21:10437.

Article Google Scholar

Smith HS, McGuire AL, Wittenberg E, Lavelle TA. Family-level impact of genetic testing: integrating health economics and ethical, legal, and social implications. Personalized Med. 2021;18:20912.

Article Google Scholar

Nisselle A, Macciocca I, McKenzie F, Vuong H, Dunlop K, McClaren B, et al. Readiness of clinical genetic healthcare professionals to provide genomic medicine: an Australian census. J Genet Counseling. 2019;28:36777.

Article Google Scholar

Follow this link:
Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals |...

Genetics

Keio University research: Genetics and COVID-19: New protein-link revealed for Japanese population – PR Newswire

For their investigation, the researchers compared the genomes of 2,393 patients who suffered from COVID-19 with that of 3,289 healthy individuals. All COVID-19 patients had been hospitalized while infected and 990 of them had been afflicted by a severe form of the disease.

The researchers identified seven genes showing prominent differences between the two groups, of which six were more prevalent in younger patients (less than 65 years old) and in the more severe cases. Upon further examination of these populations, the team conducted a genetic analysis of this population revealing that the gene responsible for producing a protein called DOCK2was mutated in these subjects.

Blood samples of COVID-19 patients were then sequenced to reveal that the risk of a mutation on this gene was associated with low levels of the DOCK2 protein. DOCK2 is currently widely understood to play a role in immune signaling, so to understand its role in the context of COVID-19 progression, the researchers isolated the blood cells of a smaller group of subjects. Their analysis showed particularly low values of DOCK2 in some white blood cells. When this observation was replicated in lab cells, using a drug that inhibits DOCK2, the cells showed hampered movement and an inability to releasechemical messengers that warn the body of disease.

The worst region of the body to be affected by COVID-19 is often the lungs, often resulting in pneumonia. Therefore, lung samples of three deceased COVID-19 patients were scrutinized. DOCK2 was found to be suppressed in the cells of these samples. Finally, the team studied the real-time effects of decreased DOCK2 in hamsters infected with SARS-CoV-2. These hamsters showed greater weight loss and fluid buildup in their lungs compared to healthy ones. The migration of immune cellswhich is essential in combating the viruswas also compromised in the infected hamsters.

This genome-wide study reveals the potential role of DOCK2 in influencing the severity of COVID-19, especially in younger populations. It could also be used as a target for drug development to fight the infection. "DOCK2 plays a key role in host immune response to SARS-CoV-2 infection and development of severe COVID-19, being a promising biomarker and therapeutic target,"1 concludes the team.

Reference

Background to the research in this paper and related information

DOCK2 and the immune system: When the DOCK2 gene is activated in our cells, it passes on the green light for DOCK2 protein synthesis.

The DOCK2 protein is known to play a role in the production and release of interferons, which are chemical messengers released by infected cells to get help from distant immune cells. DOCK2 also helps certain types of white blood cells move and migrate to the site of infection (a process known as chemotaxis) to fight the invading pathogens. These mechanisms are imperative to reducing infection, and why researchers believe younger COVID-19 patients, who are at higher risk for mutations of the DOCK2 gene, showed more severe forms of the disease.

The Joint Research Coronavirus Task Force

The paper described in this press release is the culmination of recent inter-Japan collaborative research conducted by The Joint Research Coronavirus Task Force (Japan COVID-19 Task Force) comprising of more than 120 hospitals across Japan, including 13 facilities affiliated with Keio University.1

The Japan COVID-19 Task Force was launched in May 2020 to offer a genetic approach to analyzing the spread and treatment of COVID-19.

Professor Koichi Fukunagalead author of the paper and specialist in respiratory medicine at the Keio University School of Medicine in Tokyois the head of the Task Force that has continued to collect clinical information and samples from patients during each virus variant epidemic and collaborated with hospitals throughout Japan.

The Japan COVID-19 Task Force is focusing on trends in Japan, including clarifying why the number of deaths in Japan has been significantly lower than in the United States and Europe. The results of the studies from Japanese patients are being shared with researchers worldwide to contribute to global efforts to develop treatments for COVID-19.

Keio Research Highlights: https://research-highlights.keio.ac.jp/2022/01/a.html

Further informationOffice of Research Development and Sponsored ProjectsKeio University2-15-45 Mita, Minato-ku, Tokyo 108-8345 JapanTelephone: +81 (0)-3-5427-1678E-mail: [emailprotected]

WebsitesKeio Universityhttps://www.keio.ac.jp/en/

Keio Research Highlightshttps://research-highlights.keio.ac.jp/

Photo: https://mma.prnewswire.com/media/1895226/fig_1.jpg

SOURCE Keio University

Link:
Keio University research: Genetics and COVID-19: New protein-link revealed for Japanese population - PR Newswire

Genetics

Eggs in Viking poop reveal whipworm genetics – Futurity: Research News

Share this Article

You are free to share this article under the Attribution 4.0 International license.

Scientists have conducted an in-depth genetic analysis of whipworm eggs from 2,500-year-old Viking feces.

The study, which appears in Nature Communications, presents new knowledge about the parasites development and prehistoric dispersal. This knowledge could be useful in preventing the parasites drug resistance and future spread.

The study suggests that humans and the parasite (Trichuris trichiura) have developed a delicate interaction over thousands of years, whereby the parasite tries to stay under the radar not to be repelled, which gives it more time to infect new people. Other studies show that the whipworm stimulates the human immune system and the gut microbiome, to the mutual benefit of both host and parasite.

Worms are transmitted via the fecal-oral route, meaning that microscopic parasite eggs in soil can spread to drinking water or food.

During the Viking Age and well into the Middle Ages, one didnt have very sanitary conditions or well-separated cooking and toilet facilities. This allowed the whipworm far better opportunities to spread, says professor Christian Kapel of the University of Copenhagens department of plant and environmental sciences.

While whipworm is now rare in industrialized countries, and most often only causes minor problems among healthy individuals, the parasite is estimated to affect 500 million people in developing countries.

In people who are malnourished or have impaired immune systems, whipworm can lead to serious illness. Our mapping of the whipworm and its genetic development makes it easier to design more effective anti-worm drugs that can be used to prevent the spread of this parasite in the worlds poorest regions, says Kapel.

Eggs, not worms, made it possible for researchers to examine the genetic material of thousands-of-years-old whipworms. Due to extremely durable chitin in egg capsules, their internal DNA has been well preserved while the eggs have been buried in moist soil.

By examining fossilized stool samples which were previously discovered in the latrines of Viking settlements in Viborg and Copenhagen, the researchers isolated the eggs under a microscope, sieved them from the stool, and subjected them to refined genetic analyses that the researchers have been perfecting for years in previous studies.

We have known for a long time that we could detect parasite eggs up to 9,000 years old under a microscope. Lucky for us, the eggs are designed to survive in soil for long periods of time. Under optimal conditions, even the parasites genetic material can be preserved extremely well. And some of the oldest eggs that weve extracted some DNA from are 5,000 years old. It has been quite surprising to fully map the genome of 1,000-year-old well-preserved whipworm eggs in this new study, explains Kapel.

The researchers examined archaeological stool samples from several locations. They compared the ancient genetic samples with contemporary samples from people with whipworms from around the world. Doing so has provided researchers with an overview of the worms genome and its evolution over tens of thousands of years.

Unsurprisingly, we can see that the whipworm appears to have spread from Africa to the rest of the world along with humans about 55,000 years ago, following the so-called out of Africa hypothesis on human migration, explains Kapel.

Researchers from the Wellcome Sanger Institute in the UK collaborated on the study.

Source: University of Copenhagen

View post:
Eggs in Viking poop reveal whipworm genetics - Futurity: Research News

Genetics

Ever think of hemp genetics? Dr. Bob Zemetra does – KOIN.com

Dr. Bob Zemetra works with OSU's Global Hemp Innovation Center

CORVALLIS, Ore. (KOIN) Some days, Dr. Bob Zemetra is surrounded by pot plants all day.

The plants inside a greenhouse are used for research at Oregon State Universitys Global Hemp Innovation Center. Zemetra, who is a professor of plant breeding and genetics, explained there is much more to these plants than the recreational use theyre known for.

Pot plants produce THC. The plants here have to have a low THC. So instead of producing THC, theyre producing the CBD instead, he told KOIN 6 News. But hemp plants can also be used not just for chemicals, but for fiber and even grain.

Zemetras work includes looking for benefits that come from creating different breeds.

Youre just changing what the plant produces as a chemical, he said. Its a mix of genes. So when you make a recombination or a cross, youre going to get a whole assortment of types of plants.

One example would be making genetic adjustments for medical purposes.

If youre doing CBD, then you propagate the way these plants are. You get a specific chemical profile, he said. Its great for treating some type of ailment. Then we maintain the plant so it stays genetically the same.

Another example he provided is looking for specific traits and then enhancing the gene pool to get better fiber.

Theres something in the hemp, certain types of hemp fiber that works best. So then we talk with the people making that. Then we go back and try to see what we can do to improve the plants.

For Zemetra, who spent several years teaching and researching wheat breeding, improving hemp plants and creating possibilities is whats exciting.

There are all those multiple uses that from a breeding standpoint reproduce the plants and then give it to the people in the rest of the program to figure out if it has the traits that they want, he said. Then theyll feed back what traits they want and well try to put those together.

Read more here:
Ever think of hemp genetics? Dr. Bob Zemetra does - KOIN.com

Genetics

Project Uses OpenCDS, Chatbots to Broaden Genetic Testing’s Reach – Healthcare Innovation

A clinical trial involving University of Utah Health and NYU Langone Health in New York is seeking to identify patients who qualify for genetic risk assessment using a clinical decision support algorithm to automatically evaluate family history of cancer. The BRIDGE Trial also is testing the use of a chatbot for patient outreach.

At last weeks National Human Genome Research Institute meeting on genomic learning healthcare systems, Guilherme Del Fiol, M.D., Ph.D., associate professor and vice-chair of research in the University of Utahs Department of Biomedical Informatics, described the BRIDGE (Broadening the Reach, Impact, and Delivery of Genetic Services) Trial.

This randomized controlled trial has been funded by two grants from the National Cancer Institute, one of them focused on a software platform for population-level, genomic clinical decision support, and the other one is a randomized multi-site trial using this platform for a specific use case.

Kimberly Kaphingst, ScD,a professor in the Department of Communication and the director of Cancer Communication Research at the Huntsman Cancer Institute (HCI) at the University of Utah, is the principal investigator on the project.

The original motivation for this project was the finding that about 13 percent of individuals are at elevated risk for familial breast and colorectal cancer, and that most of these individuals are unaware of their risk, Del Fiol said, and at the same time, there are evidence-based guidelines recommending genetic testing based on their family history.

The goals of the project were essentially to enable a population health management platform that allows clinicians to use computable logic to identify patients who meet evidence-based criteria for genetic testing, and then to use a registry-based approach with patient outreach tools to manage the risk, he explained.

We leverage family history that's available in the EHR, and we do not try to collect or improve the collection of family history, Del Fiol stressed. Another essential part of the strategy is that in order to minimize primary care effort, primary care providers are kept into the loop of this whole process, but they are not asked to do anything extra.

Part of the innovation is to try to use automated chatbots for the patient outreach process, which includes patient education, in offering genetic testing. The BRIDGE Trial is about to finish enrollment at University of Utah Health and New York University Langone Health.

From the project website, here is information on the BRIDGE Trials goals:

The researchers hypothesize that uptake of genetic counseling and genetic testing will be equivalent between the chatbot and the genetic services delivery models. They also plan to explore how race, ethnicity, and geographic location modify the effects of the cancer genetics services delivery models on the outcomes.

Del Fiol said the project involves use of the OpenCDS platform. OpenCDS is a multi-institutional, collaborative effort to develop open-source, standards-based clinical decision support (CDS) tools and resources that can be widely adopted to enable CDS at scale.

Del Fiol explained how the system works: The population coordinator system identifies a screening population, which in this case is basically everyone who meets a certain age range and has been seen in a primary care at University of Utah or NYU-Langone. The population coordinator retrieves data from these patients and transforms everything into FHIR from the EHR. Next, FHIR data is transmitted to OpenCDS in bulk. OpenCDS has an interface based on the CDS Hooks standard, which is a clinical decision support services standard that allows an independent service to receive a request to analyze patients according to certain logic, and then respond with the results of those analyses all in a standard format. CDS Hooks uses FHIR as the data standard both for requests and responses.

The results are then exported back into the EHR. In our case, for Epic, it uses Epics population registry solution, Del Fiol said. We load patients who meet criteria into the registry, and then the genetic counseling assistants uses that registry functionality to manage the population and conduct patient outreach activities.

This platform is supporting the BRIDGE trial, which is comparing two approaches for patient education and outreach, with the goal of offering genetic testing for patients who meet family history-based criteria. There are two arms of the study, Del Fiol explained. One is our usual care, which basically involves genetic counselors making phone calls to those patients, one by one, providing some education over the phone, in trying to schedule a genetic counseling appointment. The alternative approach in the second arm of the study is using an automated chatbot, which provides education about genetics and then at the very end of a chatbot conversation, it offers the option to receive genetic testing. If they decide to do testing, they receive a kit in the mail, collect the sample at home, mail the sample back to the lab, and an outreach note is written back into Epic with the patient's decision and the transcript of that conversation.

For patients who test positive, they get a genetic counseling appointment, and are basically back to the usual care workflow. But most patients test negative and are managed in an automated fashion using the chatbot. In both cases, a note is written into the EHR, with clinical recommendations. For patients who test negative that's an automated note, and for patients whose test positive, the note is written by a genetic counselor.

So far, more than 3,000 patients have received outreach in one of the two study arms. I'm not going to make comparisons here because the trial hasn't been completed yet, he said, but so far, 23 percent of the people who received an offer to use the chatbot or receive the phone call for genetic counseling completed the entire process they either completed the chatbot interaction, or they scheduled a genetic counseling appointment and had that appointment completed.

Del Fiol described some early lessons learned in this process. We found that using chatbots does seem to be a scalable approach for patient outreach and engagement. It minimizes the genetic counseling efforts, he said.

Overall, family history data is incomplete in the EHR. But when you have a family history assertion in the EHR, we found that it's largely correct, and rarely leads to false positive patient identification, he added.

Regarding clinical workflow, they tested interoperability using two EHR systems at three institutions, two on Epic and one on Cerner. At Intermountain Healthcare, we demonstrated that this works with a Cerner system, but we found there are significant disparities in family history documentation across different patient populations," he added. In addition, one problem with the chatbot is that it really relies on smartphone technology, and higher percentages of the people in low-SES and rural populations don't have a smartphone.

Go here to read the rest:
Project Uses OpenCDS, Chatbots to Broaden Genetic Testing's Reach - Healthcare Innovation

Genetics

Social Determinants and Genetics Work in Tandem to Drive Disparities in Breast Cancer Care – OncLive

Adana A.M. Llanos, PhD, MPH, discusses key research on the social and biological factors that influence disparities in breast cancer, how these factors work in tandem to affect patient outcomes, and how this knowledge can be deployed in the real world.

Although genetic and biologic factors play a key role in outcomes for patients with breast cancer, social and structural determinants also have a place in the equation. Addressing these existing genetic factors and social determinants, thereby improving prevention and detection, can help reduce disparities in metastatic breast cancer, where Black women historically present more frequently at advanced stages and have worse outcomes, according to Adana A.M. Llanos, PhD, MPH.

In a presentation during the 2022 ASCO Annual Meeting, Llanos highlighted how understanding the genetic and etiological aspects of breast cancer can help inform prevention and screening techniques. The next challenge for physicians will be implementing these ideas into community practice to better serve underrepresented patient populations.1

Focusing on all of the different time points throughout [the cancer care] continuum will be a critical aspect of achieving more health equity and more equitable outcomes, Llanos said. This is a major goal throughout my long-term research interests.

In an interview with OncLive, Llanos discussed other key research on the social and biological factors that influence disparities in breast cancer, how these factors work in tandem to affect patient outcomes, and how this knowledge can be deployed in the real world. She is an associate professor of Epidemiology at the Mailman School of Public Health at Columbia University and an adjunct associate professor at Rutgers School of Public Health.

Llanos: My talk was part of a discussion involving 2 selected abstracts. The session included abstracts that focused on some of the racial, ethnic, and regional disparities in metastatic breast cancer.

The lead author for the first abstract is Sachi Singhal, MD, [who explored racial and regional disparities in metastatic breast cancer].2 The second abstract focused on the variation of genetic mutations, specifically pathogenic variants in breast cancer predisposition genes, and how they're related to triple-negative breast cancer [TNBC].3 That abstract was presented by Michael J. Hall, MD, MS.

In my talk, I provided an overview of some of the existing racial and ethnic disparities that we see in breast cancer in the United States, highlighting stage distribution and focusing on the fact that the distribution of tumor stage varies by race and ethnicity. We see high rates [of advanced stages of disease] among Black women. Moreover, I talked about some of the factors related to this disparity in advanced stage diagnosis by race.

I also presented the distribution of tumor subtypes, focusing on TNBC, which tend to be among the most aggressive forms of breast cancer. We see that the incidence of TNBC is substantially higher in Black women. [Our goal is to gain a greater] understanding of how some of the racial, ethnic, and ancestral [factors of breast cancer intersect and interact with] genetics and social determinants of health to contribute to these disparities and how they impact poor outcomes among some patient groups.

This session highlighted some of the facts that clinicians already know. The abstracts [by Drs Singhal and Hall] got at the biology [of breast cancer] and the social/structural determinants that could be related and working together to impact outcomes.

Im an epidemiologist, and Im interested in studying social and biological factors that contribute to disparities. One of the takeaways in my talk was how we can address breast cancer disparities at multiple phases in the cancer control continuum. This includes looking at etiology and biology, which is more focused on genetics and ancestry. These are things that we cannot change but understanding them better will give us a good sense of ways that we can address disparities.

Looking at prevention, we talk a lot about precision medicine and treatment. However, maybe we should be talking more about precision prevention, [which includes] detection and diagnosis. There are disparities [in these spaces], and [it is important to consider] how we can address those disparities.

Guideline-concordant treatment was not a major focus of my talk but understanding the genetics behind some of these disparities will contribute to improving the treatment options and guideline-concordant treatment for patients with breast cancer. Lastly, public health is important. [We need to learn] how to deploy all this knowledge to have a broader impact on patients and communities.

[Considering] the emerging data and studies around the genetics of TNBC, one of the limitations of a lot of the existing and past research is the historical underrepresentation of racial and ethnic minority groups, especially those of African ancestry. As new studies and larger studies are initiated, it is critical to have broad representation of diverse ancestral backgrounds to [allow investigators] to get a sense of some of the genetic and etiological differences, why they exist, and how [these factors] can impact treatment.

As important as biology and genetics are, we need to consider the social determinants and structural determinants across the entire cancer care continuum, not just for breast cancer, but for all cancers.

Original post:
Social Determinants and Genetics Work in Tandem to Drive Disparities in Breast Cancer Care - OncLive

Genetics

The power of genetics to unleash the potential of indoor farming – Vertical Farm Daily

How can the biology of a crop be manipulated for greater profits in this fast-growing market through breeding?

Since early farmers began collecting seeds for propagation, they focused on varieties that performed best in unpredictable field conditions, not in highly controlled environments. Specifically, crop plants exude up to 40% photosynthate into the soil to "feed" beneficial microbes and allocate additional resources to produce secondary products to protect against pests and diseases.

Unlocking the full potential of seed for precisely controlled environments, where every day is a good day, will allow breeders to focus on plant characteristics that improve when grown indoors and downplay problems that would be of great concern for outdoor production. As we control the environment more, we can engineer crops with traits to delight the consumer and improve the supply chain.

Marc Oshima, co-founder of AeroFarms, says, "For vertical farms, breeders can focus on qualities of primary importance to consumers: flavor, aroma, texture, and other quality-related attributes. It's also important to have plants that are architecturally efficient so that they can be easily maintained and harvested in our unique environment."

The biggest breeding goals for field-grown fruits and vegetables are disease resistance. Breeders are spinning on a treadmill to stay ahead of the next disease in the field. It's not simply a matter of swapping disease-resistant genes for genes that confer good flavor, but CEA allows breeders to stay ahead of the next potentially devastating disease outdoors. Some diseases, such as powdery mildew, are possible indoors but can often be controlled by management practices.

Source: http://www.bioeconomia.info.

Go here to read the rest:
The power of genetics to unleash the potential of indoor farming - Vertical Farm Daily