Rachel Silva-Smith
Rachel Silva-Smith
  • Видео 17
  • Просмотров 82 291
Using Polygenic Risk Scores to Predict Cancer Risk
In today’s video, I’m talking about a hot topic in the world of cancer genetics - Polygenic Risk Scores! I explain what a Polygenic Risk Score is, how it can be used to more accurately predict cancer risk, and some of the concerns about this type of genetic testing. I also tell you where you can get this type of testing.
0:00 Intro
2:01 What are Polygenic Risk Scores?
5:11 How do Polygenic Risk Scores Improve Cancer Risk Prediction?
9:15 How can you get a Polygenic Risk Score?
11:42 Should you get a Polygenic Risk Score?
15:04 Conclusion and Future Video Tease
STUDIES ABOUT RISK MODIFICATION FOR MUTATION CARRIERS:
pubmed.ncbi.nlm.nih.gov/32609350/
pubmed.ncbi.nlm.nih.gov/34322652/
OTHER VIDEOS IN T...
Просмотров: 907

Видео

Protect Your Kids from a Genetic Mutation
Просмотров 5044 года назад
Protect Your Kids from a Genetic Mutation In this video we are learning about Preimplantation Genetic Testing (PGT) on TikTok! Previously referred to as Preimplantation Genetic Diagnosis, this technique can be used for many different reasons. It is often used to screen embryos to determine if they’ve inherited a known familial genetic mutation, such as a mutation that increases the risk of canc...
Common Concerns about Hereditary Breast Cancer
Просмотров 3764 года назад
In this video, we will learn about cancer genetics by watching TikTok videos. The focus of these videos is hereditary breast cancer and we will specifically discuss patient-initiated genetic testing (BRCA test) through Color Genomics, prophylactic (preventative) mastectomy due to hereditary cancer risk, and how genetic test results can impact surgical decisions and chemotherapy options for pati...
What it's like to be a Genetic Counselor
Просмотров 11 тыс.4 года назад
Rachel Silva-Smith, Certified Genetic Counselor, discusses what it's like to be a Genetic Counselor, including board exam preparation, licensure, day-to-day life, the different specialties and work settings, the challenges of the profession, the best parts of the profession, and the future of Genetic Counseling. Online review course: geneticreviewonline.com/ Create your own flashcards for study...
Multiple Endocrine Neoplasia Type 1 Explained by a Genetic Counselor
Просмотров 4,7 тыс.4 года назад
Genetic Counselor reviews the main tumors associated with Multiple Endocrine Neoplasia Type 1 and explains the genetics of this rare syndrome. Check out a great resource for people with MEN1 or other types of Multiple Endocrine Neoplasia at www.AMENSupport.org (American Multiple Endocrine Neoplasia Support). They also have a Facebook support page. INTERESTED IN GENETIC COUNSELING AND TESTING? I...
Patient's Experience With BRCA Testing
Просмотров 4024 года назад
In this video I talk about what I think about this patient's experience getting BRCA testing. The patient undergoes genetic counseling and genetic testing for a mutation in BRCA1. In this video you will learn about how to prepare for a genetic counseling appointment, the cost of genetic testing, what happens during a genetic counseling appointment, and how genetic testing is performed. Thank yo...
Grey's Anatomy Reaction: Li-Fraumeni Syndrome
Просмотров 3,4 тыс.4 года назад
In Grey's Anatomy S10E14 a 16-year-old girl is diagnosed with 3 tumors. She also has a significant family history of cancer. She is diagnosed with Li-Fraumeni syndrome which is caused by an inherited mutation in the gene TP53. Li-Fraumeni syndrome is associated with a high risk of sarcoma, breast cancer, brain cancer, leukemia, and adrenocortical carcinoma. If you want to learn more about Li-Fr...
Myths about Breast Cancer Genetic Testing
Просмотров 2134 года назад
In this video I clarify myths about breast cancer genetic testing, including the cost of genetic testing, who needs genetic testing, what positive and negative genetic test results mean, and whether there are any other breast cancer genes besides BRCA1 and BRCA2. INTERESTED IN GENETIC COUNSELING AND TESTING? I offer genetic services through telemedicine. Find out more and schedule an appointmen...
23andMe Health Report Review by a Genetic Counselor
Просмотров 33 тыс.4 года назад
In this video I review 23andMe’s health report, specifically genetic testing for BRCA1/2 and MUTYH and explains the important limitations of this test. I also discuss alternative options for patient-initiated genetic testing. 23andme study: www.ncbi.nlm.nih.gov/pmc/articles/PMC7203114/ Invitae: www.invitae.com/en/ Color Genomics: www.color.com/ INTERESTED IN GENETIC COUNSELING AND TESTING? I of...
What Men Need to Know About Breast Cancer
Просмотров 1334 года назад
Can men get breast cancer? Rachel Silva-Smith, MSc, Certified Genetic Counselor, summarizes what you need to know about male breast cancer, focusing on the hereditary aspects. She discusses genetic testing for genes associated with hereditary male breast cancer such as BRCA2. PATIENT SUPPORT: The Susan G. Komen Foundation offers free, 6-week telephone support groups for men with breast cancer. ...
Grey's Anatomy Reaction: BRCA Preventative Surgeries
Просмотров 3,9 тыс.4 года назад
Genetic Counselor Reacts to Grey's Anatomy S2E8 in which a woman with a BRCA mutation decides to have preventative bilateral mastectomy and oophorectomy and hysterectomy since she has a high risk of breast and ovarian cancer. Her husband and her surgeons are not supportive of her decision to have these prophylactic surgeries. If you want to learn more about BRCA mutations check out the support ...
Understanding Your Cancer Genetic Test Report
Просмотров 8 тыс.4 года назад
Rachel Silva-Smith, MSc, Certified Genetic Counselor, explains how to understand your cancer genetic test report. She discusses the key elements of a cancer genetic test report using sample reports from the genetic testing labs Invitae, Myriad Genetics, Ambry Genetics, and Color Genomics. She also reviews the possible results of genetic testing including positive results, negative results, or v...
What is Genetic Counseling?
Просмотров 5414 года назад
What is Genetic Counseling and how is it useful? Rachel Silva-Smith, MSc, Certified Genetic Counselor, explains what a Genetic Counselor is, why you might need to see a Genetic Counselor for cancer risk, what to expect from your genetic counseling visit and how to prepare for your appointment, the process of cancer genetic testing, and how to find a Genetic Counselor. INTERESTED IN GENETIC COUN...
Why You Need Genetic Testing if You Have Pancreatic Cancer
Просмотров 6394 года назад
Rachel Silva-Smith, MSc, Certified Genetic Counselor, discusses the benefits of genetic testing for individuals with pancreatic cancer or a family history of pancreatic cancer which include cancer treatment options and pancreatic cancer prevention. DNA BANKING: www.preventiongenetics.com/pgdnabank/ INTERESTED IN GENETIC COUNSELING AND TESTING? I offer genetic services through telemedicine. Find...
Lynch Syndrome Explained by a Genetic Counselor
Просмотров 9 тыс.4 года назад
Rachel Silva-Smith, MSc, Certified Genetic Counselor, reviews the cause of Lynch Syndrome, the cancers risks, and risk management options including screening tools, preventative surgery, and modifiable risk factors. She also discusses genetic discrimination and how having Lynch Syndrome can impact your children. PREMM5 model to predict the risk of Lynch Syndrome: premm.dfci.harvard.edu/ LYNCH S...
Grey's Anatomy Reaction: Hereditary Diffuse Gastric Cancer
Просмотров 3,4 тыс.4 года назад
Grey's Anatomy Reaction: Hereditary Diffuse Gastric Cancer
Who Needs Genetic Testing for Cancer Risk?
Просмотров 2,7 тыс.4 года назад
Who Needs Genetic Testing for Cancer Risk?