Ana Sofia Correia’s Post

"Awareness of the different definitions of the on test data is necessary to facilitate the reporting and interpretation of results on PRS generalizability. It is recommended to explicitly state which definition was used when reporting values on test data. Further research is warranted to develop and evaluate well-calibrated polygenic models for diverse populations.” #polygenicriskscore #prs #predictionmodeling #genetalizablity #inference

From the beginning of my graduate training at Vanderbilt University studying human genetics, I was struck by the very real possibility that within my lifetime we would start to see cures developed for rare, #geneticdiseases. My dissertation focused on the implementation of #precisionmedicine--what it takes scientifically, technically, and most importantly: the ethical, legal, and social issues (#ELSI) to ensure patient values and preferences are at the heart of #medicalinnovation. And I've spent my post-training career considering these important questions from nearly every angle of the healthcare ecosystem.   So, it should come as no surprise to hear that I've been following the #sicklecelldisease treatment approvals with great interest. If you're not familiar with #SCD, I recommend heading over to the Sick Cells website and getting educated. It's a devastating disease.    But what my time in each of my roles has taught me, is that ensuring equitable access to this and other curative diseases will be complicated, involve many stakeholders, and probably be fraught with failures along the way. I am looking forward to conversations in 2024 around this topic. I have lots of ideas and even more questions--like how do we pay for these treatments? How can we accurately and completely measure the value of a cure? How do we make sure that *every* patient voice is heard for their values and preferences? What are the ethical challenges we still have yet to properly address so that we don't amplify existing health disparities?   So if you're also thinking hard questions about all of the potential cures coming in the next decade, let's chat in the new year! I look forward to spirited debate with open minds, sharing evidence, and ensuring patients don't get left behind. #healthequity #healthdisparities #heor #bioethics #patientvoice #valuebasedcare

Professional thoughts and musings: Consenting and information overload 💡 Most people want information before making a decision. I’d go so far as to say that even more people would want to make an informed medical decision – either for themselves or a loved one. Sophisticated genetic testing from a blood or saliva sample can identify more genetic and chromosomal variation than we ever could in the past. Pair that with a modern culture of customization and we get patients and consumers faced with way more information than we or they know how to make sense of. ↘️ I’ve heard and seen consent for genetic testing obtained poorly: verbally dominated by the provider, terms and vocabulary used without context, technical details that don’t actually matter, and the numbing “do you have any questions”? at the end. I admittedly may have been guilty of this early on. I’ve observed though that patients mostly really care about how much the test will cost, when the result will be back, how they will get results, and what they (and you) will do with the information. 🎨 It is a balanced art to obtain informed consent – how do you approach it while avoiding information overload? I would love to hear what you think!

We at AIRNA are excited about the impact that RNA editing can have for patients. This review in Nature's Drug Discovery journal highlights the potential of RNA editing as companies are moving into the clinic. Thorsten Stafforst, AIRNA co-founder whose lab pioneered this field, highlighted this potential by saying, "There are billions of things you can imagine doing.”  AATD is just the beginning as RNA editing can unlock a wide spectrum of genetically-validated, difficult to drug targets. Our CEO Kris Elverum believes, “We may be able to introduce gain-of-function variants into people in a safe, temporary and dose-dependent manner.” https://lnkd.in/gD6_heX4

Unlocking the Mysteries of Rare Diseases: The Vital Role of Medical Genetics In the intricate world of rare diseases, each case presents a unique puzzle. With less than 1 in 200,000 people affected by conditions like Galactosemia, the quest for understanding is as complex as it is crucial. Galactosemia, for instance, exemplifies why personalized attention in medical genetics is essential. A metabolic disorder affecting the body's ability to process galactose, it requires early detection and a lifetime of careful management. It's here that medical genetics comes to the fore, arming clinicians with the insights needed to make timely diagnoses and tailor treatments. Beyond diagnosis, medical genetics holds the key to unlocking the broader implications of rare diseases. It informs how we develop therapies, how we anticipate the needs of patient communities, and even how we approach preventative care. At i-Pharm, we're in awe of the life-changing work of our clients in Pharmaceutical, Biotech, and MedTech sectors. Their relentless pursuit of breakthroughs in rare diseases and medical genetics isn't just science; it's a commitment to changing lives. Together, we're more than just recruiters or scientists; we're partners in pioneering progress. And we're always on the lookout for the next brilliant mind that will help unlock another piece of the puzzle. #RareDiseases #MedicalGenetics #Galactosemia If you're driven to make a tangible impact in the field of medical genetics or know someone who is, let's connect and explore how your talents can lead to the next big discovery.

In Biostatistics, combining Biological and Statistical knowledge is very important, especially when working with causal inference and finding instrumental variables. Here you may find the exemplar project i made https://lnkd.in/dFPY5Axg, Instrumental variable regression in R (real world diabetes dataset based) for anyone interested to learn. Implementation in R. #biology #statistics #research #biostatistician #datascience #clinicalresearch #diabetes #r #rstats

Genetic and genomic testing technology enhances #medicalcare, necessitating the evolution of #electronichealthrecords to address patient autonomy, access, genetic literacy, privacy, and #genomicdata set. #genetictesting #healthcare #medicine https://lnkd.in/d6KnHH5F

Wishing you a holiday season full of love, peace, and happiness. May the spirit of Christmas bring you hope and inspiration for the coming year. Merry Christmas and a Happy New Year!!! Varun Kumar Avantika Rana Manoj Mishra Tarun Rawat Rakesh Jain Amiit Keshav Naik Dr. Rakesh Ojha (PhD in Medical Pharmacology) Frank Freischläger Zaidoon A. Al-Zubaidy Andrew Silverman Lokesh Chaudhari Praful Bhanushali Hanspeter Schnitzer Mark Jaros Charles Bon #sas #sasprogrammer #sasprogramming #dataanalyst #biostatistics #biostatistician #statistics #statisticalprogramming #statisticalanalysis #stats

𝐓𝐡𝐞 𝐅𝐮𝐭𝐮𝐫𝐞 𝐢𝐬 𝐢𝐧 𝐎𝐮𝐫 𝐆𝐞𝐧𝐞𝐬: 𝐔𝐧𝐯𝐞𝐢𝐥𝐢𝐧𝐠 𝐭𝐡𝐞 𝐏𝐨𝐰𝐞𝐫 𝐨𝐟 𝐏𝐫𝐞𝐜𝐢𝐬𝐢𝐨𝐧 𝐌𝐞𝐝𝐢𝐜𝐢𝐧𝐞 I'm thrilled to be working in the field where cutting-edge science meets patient care - Clinical Genetics, Medical Genetics, Human Genetics, and Precision Medicine! For me, Human Genetics isn't just a subject, it's a captivating story written in our DNA. Understanding how these intricate codes influence health and disease in Medical Genetics is what drives my passion. Imagine a world where treatments are tailored to your unique genetic makeup. Precision Medicine is making this a reality, and I'm energized to be part of the revolution. 𝐇𝐞𝐫𝐞'𝐬 𝐰𝐡𝐚𝐭 𝐠𝐞𝐭𝐬 𝐦𝐞 𝐞𝐱𝐜𝐢𝐭𝐞𝐝 𝐞𝐯𝐞𝐫𝐲 𝐝𝐚𝐲: 𝐔𝐧𝐫𝐚𝐯𝐞𝐥𝐢𝐧𝐠 𝐭𝐡𝐞 𝐦𝐲𝐬𝐭𝐞𝐫𝐢𝐞𝐬: Every genetic discovery unlocks new possibilities for diagnosis, prevention, and treatment. 𝐄𝐦𝐩𝐨𝐰𝐞𝐫𝐢𝐧𝐠 𝐩𝐚𝐭𝐢𝐞𝐧𝐭𝐬: Knowledge is power, and genetic counseling allows individuals to make informed decisions about their health. 𝐀 𝐟𝐮𝐭𝐮𝐫𝐞 𝐨𝐟 𝐩𝐞𝐫𝐬𝐨𝐧𝐚𝐥𝐢𝐳𝐞𝐝 𝐜𝐚𝐫𝐞: Precision Medicine holds the promise of a healthcare system that treats the root cause, not just the symptoms. 𝐀𝐫𝐞 𝐲𝐨𝐮 𝐚𝐬 𝐩𝐚𝐬𝐬𝐢𝐨𝐧𝐚𝐭𝐞 𝐚𝐛𝐨𝐮𝐭 𝐭𝐡𝐞 𝐟𝐮𝐭𝐮𝐫𝐞 𝐨𝐟 𝐠𝐞𝐧𝐞𝐭𝐢𝐜𝐬 𝐚𝐬 𝐈 𝐚𝐦? Let's connect and discuss how this field is transforming medicine! #ClinicalGenetics #HealthCare #HumanGenetics #MedicalGenetics #Medicine #PrecisionMedicine #FutureofHealthcare 𝐅𝐞𝐞𝐥 𝐟𝐫𝐞𝐞 𝐭𝐨 𝐬𝐡𝐚𝐫𝐞 𝐲𝐨𝐮𝐫 𝐭𝐡𝐨𝐮𝐠𝐡𝐭𝐬 𝐚𝐧𝐝 𝐞𝐱𝐩𝐞𝐫𝐢𝐞𝐧𝐜𝐞𝐬 𝐢𝐧 𝐭𝐡𝐞 𝐜𝐨𝐦𝐦𝐞𝐧𝐭𝐬!

Becoming a genetic counselor isn’t an easy feat or a common one. The first training program for genetic counselors (GCs) was established in 1969 and since then the field has grown. But as the number stands, there are just over 6500 certified GCs in the US. To put that in perspective, that's less than one genetic counselor per 50,000 Americans! Genetic counseling is an interdisciplinary field by nature, and this skill set translates into different types of roles and responsibilities throughout the healthcare field. You can find GCs in labs, hospitals, pharmaceutical companies, academic institutions, and the list goes on. So when you think about how valuable a GC is, your first thought might be that they are well supported and they are given time for professional development and performing to the best of their ability. In reality, 88% of genetic counselors are suffering from burnout due to high caseloads, understaffed clinics, few tools to support their daily work, incommensurate compensation and not enough recognition in the medical world. We need to make a change. Why aren't GCs being better supported as medical providers? Don't they deserve an assistant too? #geneticcounseling #burnout #patientcare