- Видео 17
- Просмотров 81 274
Rachel Silva-Smith
США
Добавлен 13 мар 2020
Welcome to my channel! If you're a healthcare provider in oncology or have a personal or family history of cancer or if you have a genetic mutation that increases your risk of cancer, this channel is for you!
I'm a Certified Genetic Counselor specialized in Hereditary Cancer. I'm passionate about empowering people with information about cancer genetics, clarifying genetic test results, clearing up misconceptions, and educating healthcare providers about hereditary cancer syndromes.
Hit the SUBSCRIBE button and notification bell so you don't miss any of my videos!
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See you in the comments!
This RUclips channel is not intended to provide diagnosis, treatment, or medical advice. Content provided on this RUclips channel is for informational purposes only and should not be considered as a substitute for advice from a healthcare professional.
I'm a Certified Genetic Counselor specialized in Hereditary Cancer. I'm passionate about empowering people with information about cancer genetics, clarifying genetic test results, clearing up misconceptions, and educating healthcare providers about hereditary cancer syndromes.
Hit the SUBSCRIBE button and notification bell so you don't miss any of my videos!
Join my mailing list so you get videos straight to your inbox! sendfox.com/form/m8d723/1d2pj3
See you in the comments!
This RUclips channel is not intended to provide diagnosis, treatment, or medical advice. Content provided on this RUclips channel is for informational purposes only and should not be considered as a substitute for advice from a healthcare professional.
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...
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: 898
Видео
Protect Your Kids from a Genetic Mutation
Просмотров 5033 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 3733 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.3 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 3974 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 2124 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 5384 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 6234 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 2,6 тыс.4 года назад
Who Needs Genetic Testing for Cancer Risk?
2 of my mom's sisters got ovarian cancer..Should I go for testing?
There are many genes such as ODZ4 that 23andme doesn't genotype
I have the same and cancer stage four in pancreas tumors in adrenal pituitary pancreas lungs now possibly liver and thyroid
Thank you for this information. I hadn't realized that the cancer woes in my family could all be linked. My Maternal Great Grandmother had breast cancer, my maternal grandmother had intestinal cancer, my mother was just diagnosed with pancreatic cancer, and my younger brother has been fighting undifferentiated pleomorphic sarcoma (rarest of the rare) for 18 months. I'm going to see if my VA Health Care Provider will get me this testing. I worry for myself, my sister and my nephew!
Sorry to hear about the family history. You definitely qualify for genetic testing and it could provide very useful information for you and your family.
As a lynch Syndrom woman can I use estrogen HRT after a total hysterectomy????
My grandmother had and died from colon cancer.
Did you say 23andMe is the better option if Im adopted? That was a little confusing. Im adopted, know nothing about my biological family, and really trying to figure out if Im susceptible to anything.
Can you do a video on Muir-Torre Syndrome specifically?
typical neuroendrocrine tumor on lung cause...
I did 23andme before they did health reports and I upgraded later on and found out I have hereditary hemochromatosis. I was suffering symptoms for years and this was the piece of the puzzle I needed. It saved my life.
Sir, My relatives NGS report has been processed and results are here- TP53 mutations have been reported in various solid tumors including high grade sarcomas. These mutations have been associated with enhanced proliferation and invasion and hence an aggressive phenotype. In few studies, pazopanib has been shown to marginally increase progression free survival in advanced TP53 mutant advanced sarcomas. Therapies considering reconstruction of P53 mediated pathways are in various phases of clinical trials. What should be done for TP53 mutation, is there any treatment option available for this. Sir, kindly reply sir.. The type of Cancer is LMS, it's high grade, stage IV
Thyroid cancer at 14, pituitary adenoma at 21 and now suspected acral melanoma at 28
I’m very sorry to hear this.
@@amuj10k258 It’s okay we are looking into things at the moment
Thank you for this information, my husband passed from men1 and both sons have it also
This video just popped up in my RUclips feed. Hopefully your genetic counseling career is going well. And yes, I think your comments on 23&Me were spot-on and just as useful three years later. For the life of me, I don't know why people don't just get fully sequenced and be done with it. If medical grade testing is required, 100x full genome sequencing is more of a one-and-done approach. That way, you can shop the tools or services you want to use for analysis in any particular area of specialty, whether oncology, nutrition, autoimmunity, ancestry, pharmacology, genetic counseling about particular concerns, etc. My wife and I were early adopters of 23&Me (around the time they had their battles with the FDA). At the time, it was interesting and helpful. However, as I became more proficient and started digging into specific genes and SNPs related to areas of my health I was studying, I kept hitting roadblocks because of the sparse data. Finally, I got 30x full genome sequencing through Nebula. (30x sequencing is plenty for most applications except the most dangerous, life-changing, genetic diseases where you want to be 100% sure.) That company has their own quirks, but having my full genome data has been incredibly helpful, and having downloaded all my data, I have a lot more flexibility. I've used my own genetic data to successfully identify and treat a root cause of my autoimmunity, and now four different autoimmune diseases are in remission. At this point, I won't walk into a doctor's office without having related genetic data to help them help me better. "As you can see from this personal report and data, I'm in the 98th percentile for significantly higher risk of several forms of dementia. What recommendations do you have for lowering risk and/or delaying onset, along with a plan for more aggressive early detection/treatment?" That approach is a lot more effective than, "I think my great aunt may have been senile before she died. Should I worry?" As a related side note, modern algorithms and AI solutions can produce drastically different results depending on how questions are asked. My favorite example is to type into Google's search bar "How cn U" or "How can an individual" and compare the search suggestions Google makes without actually doing the searches. The difference is pretty shocking and highlights the importance of how we seek answers, starting with how we frame our questions.
I've got this. I lost my daughter to it, specifically a Choroid Plexus Carcinoma. She was 4 years old. So far no cancer in myself but I'm just waiting for it to happen. I'm 36yo, I get a brain-spine MRI yearly, a colonoscopy yearly, mammograms yearly, and blood tests in general yearly. I'm working with my insurance on getting a preventative mastectomy.
I’m so so sorry about your incredible loss. Glad to hear that you are being very closely monitored ❤️
I lost a 12 yr old niece( my sister's child) and my 14 yr old niece(my brothers child) and a 17 yr old cousin to choroid plexus.and another niece had a tumor on the choroid plexus which was removed before it could be cancer.i lost a cousin at 40 and another aunt at age 35
I have it, already had my kids, my daughter was tested, she doesn’t have it. My son chose not to get tested. I’ve survived breast cancer, I’m on long term oral chemo, I pray everyday that I won’t get another tumour. 🙏🏼
My family too
How much does it cost to get tested?
Genetic testing is often covered by insurance based on personal and family history. If it’s not covered, most labs offer out-of-pocket testing for $250.
I have men1 and I like to call myself a teenage mutant ninja turtle idk it makes me feel slightly better about being a mutant I also call myself a reverse shark because sharks don’t produce any calcium lol 😂
I found your channel while researching nutritional health gene testing e.g. 10x which tests for COMT, AHCY, MTRR, MTR & MTHFR. But now I am interested in also testing for cancer related mutations, my older half-brother was taken by Pancreatic Cancer.
So sorry for the loss of your brother. I hope you were able to get genetic testing done.
daughter tested with 23 and me wife myself another daughter and my mum in law with ancestry i transferred mine,wifes and mum in laws to Prometheus. with is a none smoker and not ever worked in a dusty environment she has a 40% educed lung capacity due to copd. looked at wifes report she is mz for alpha1, her mum is zz as is the daughter with 23and me, she has had the clinical tests and they confirm this. mum in laws bother died in his late 50s with liver failure. me and the other daughter are mm normal. so its accurate in some things
Yes, if a mutation is found it might definitely be real and should be confirmed with clinical testing. But negative results can oftentimes be “false negatives”.
I have Lynch Syndrom. I got a Lynch tumor in my bile ducts. The surgeon tried to take the tumor out but unfortunately the cancer grew back. I then got immunotherapy, Nivolumab and within three months the cancer was gone. Immunotherapy, check point inhibitors often work exceptionally well on Lynch tumor if given before the patient had radiotherapy or chemotherapy. It is important to give immunotherapy to Lynch patients as a first line treatment. It then can be curative and not just palliative.
The problem I have with 23 and me. Is it makes it sound like your going to get the stats on whether you are prone to cancer or things. So you pay the extra. And get nothing. Then they keep wanting you to give them more money to find who knows what out. Not doing it its a cheat just a grab for more money. I wanted to find out if I had they genes for Hypertrophic cardiomyopathy. Its genetic and runs in the family. Not even close to any of that
My mom had ovarian cancer, it's a risk for me, ..?
Having a family history of ovarian cancer is definitely a good reason to get genetic testing.
nice useful lecture - thanks
My dad and his dad both got liver and esophagus cancer but both drank and smoked heavily so how do I know if it's genetic?
alcohol and tobacco use are big big risk factors for cancer so your family history might be entirely attributed to that but if there’s additional family history of cancer it might be a good idea to see a genetic counselor to determine if genetic testing is recommended for you
Such a shame you didn’t enable captions, since you talk fast and I don’t understand you. Was really looking forward to this video.
You can change the play back speed so you slow her down.
Thanks for this video. Just found out this week that my mom has Lynch Syndrome, and I am waiting on my own test results now. My maternal grandmother had endometrial cancer leading to a hysterectomy, then died of colon cancer, so even if I am negative, I want to know all I can about what to expect for my mom.
I recvd my myraid results. Negative for BRCA1 and 2... but a VUS for TP53. I had a mammo. First there was a small questionable area in my left breast. It was very small and could not tell the contents. Doc had me return in 6 months. The spot now had cluster calcification but again small area and wants me to return in 6 months. Im nervous as to if we are just waiting for it to spread or what.
Do you know anything about Promethease? I got a report from them and I have one from Invitea from a hereditary cancer panel. MHS6 (VUS). I have had multiple adenomatous colon polyps removed and my son had polyps removed at 19. Promethease reports are very detailed. You can sort it out multiple ways but kind of complicated. Other things that doctors have suspected with me or I already knew, like being HLA-B27 positive, Leiden Factor 5 (I have a history of DVT), autoimmune risks, etc.
I received my genetic results today and I have the tp53 variant, thank you for the information and the compassion!
Me too...many family members
I wrote a paper on this in grad school thirty years ago. It was a review of available research on the genetic implications of tp53 mutations. A couple of the research articles I reviewed stated that if a person had a mutation on one of the tp53 alleles they were at high risk for mutation of the second allele.
I did genetic testing,dis-appointment the result(uncertain significance)i don’t understand ,I paid 407 Canadian dollars I was diagnosed breast cancer
Will you update this video with companies offering 30x and 100x scanning. Is 100x significantly better than 30x scanning ?
Hello I am yash age 22 years I was diagonised with disease of MEN 1 syndrome on 31 may 2023 and DDX41 mutuation variant on 31 may 2023 so mam mene Surgery of parathyriod done 28 july 2023 and whipple procedure done on 6 september sucessfully & Pituatary arachnoid cyst have on follow up . So i ask that mam this problem need regular investigation every 6 months . In case of men 1 tumor can be reoccur mostly or rarely ? And DDX41 have no clinic find in body check up & scan . I am feeling very bad for my future . I also say that my father was died with disease renal cancer stage 4 it is related to men 1 problem ? I request pls reply me .
Once all the organs are removed then it’s cured but you will need to take hormone replacements for the rest of your life
@@scarba mam but merko non functioning the tumor
Thank you for this information
This has nothing to do with the video😄 but I love you living room it's so peaceful and comfortable looking it's exactly what I'm looking for
What about autoimmune diseases? I am diagnosed with lupus and dry eye but it’s amazing how they asked me directly if I have lupus and dry eye found it very interesting
I have non-inherited damage to MSH1 and PMS2, discovered after I was found to have endometrial cancer at age 61. I had a full hysterectomy and radiation (brachytherapy) treatment. I was told I didn't need enhanced surveillance, especially since there's no history of any colon history that we know. My mother was adopted; previous to all of this, I tracked down her biological mother and half brother and they both lived into their 80s. I would be interested to know then what are some of the "environmental" causes that might have created this. I've heard so many different theories, from clinicians and others. Thanks.
I had colon cancer,and pre uterine cancer but i tested negative for Lynch syndrome. My dad had colon cancer my mom uterine. Not sure if i inherited it from them both.
I thought at first that Rachel Silva-Smith was the actor who played the patient in this episode of “Grey’s Anatomy.” They look so alike!
Oooh can you do the Ehlers Danlos Syndrome episode? It's season 13 episode 4
Thank you
Your knowledge is amazing . You must be science based. Medical grade labs with clinics. Seem necessary for most people after so many disease states 2008-2022
Thanks for the other options.
Testing genealogy 24 and me works.
Great info and just what I needed. Many thanks!
Thank you for watching! So glad you found it helpful!
My pathology from my colonoscopy showed retained nuclear staining for MLH1 in one of the polyps (non cancerous). None of my family members have any lynch associated cancers. Should I have genetic testing?
Retained staining is normal! If it was deficient staining that’s when we would be concerned for Lynch syndrome.
Clear and concise. Thank you.
I had unterine poly removed- non cancerous was determned the OB?GYN did a genetic testing, I was diagnosed with "lynch syndrome" he suggested a hysterectomy. There are no women in my entire family that has ever had the need for a hysterectomy no one has died of colon cancer. Most hysterectomy's are not even necessary. Removing an organ that will alter your hormone levels and will shift your your entire mid body for the sake of a "maybe " diagnosis is absolutely reckless. If you have lynch syndrome, leave your uterus and ovaries where they are and go get regular yearly ultrasounds.
Nobody in my family had any cancer, including extended family, except my mother had superficial cancer of the womb. My half sister and I had Lynch Syndrome. Both my grown children have it and my brother has it. Pap smears DO NOT detect Lynch Syndrome. You either have to get a biopsy of the uterus or an internal “wash” that captures cancer cells. Family history should not be the determining factor. Your survival rate is five years if you have Lynch Syndrome. A young man died at 24 after having his colon removed it had spread so far. Do not play around with this.
Thoughts about Nebula