Recent items - Fantastic Voyage
Clinical Genetics Institute celebrates its 5th birthday with an open house on May 3rd
27/04/2010 03:43
Perspective from a medical geneticistHard to believe it’s been over 5 years since we opened our doors. I’m not one to rest on accomplishments or spend a lot of time looking backwards, but I think our early childhood has had some significant milestones—not to mention some teething pains!! I would highlight the inclusion of links to genetic information within our electronic health record resources; developing techniques for rapid technology assessment of emerging genetic tests which lead to the [...]
27/04/2010 03:43
Perspective from a medical geneticistHard to believe it’s been over 5 years since we opened our doors. I’m not one to rest on accomplishments or spend a lot of time looking backwards, but I think our early childhood has had some significant milestones—not to mention some teething pains!! I would highlight the inclusion of links to genetic information within our electronic health record resources; developing techniques for rapid technology assessment of emerging genetic tests which lead to the [...]
Got Gout?
28/12/2009 07:45
After returning to work from the Thanksgiving holiday, I was asked by Marc and Janet if my 23andme report contained anything about Gout. Janet said Gout was a topic of conversation while visiting with her family. Sure enough, I found Gout listed in my elevated-risk section of the Research Report. (Remember, the information in the research report section “has not yet gained enough scientific consensus to be included in [23andme’s] clinical report.”Click to enlarge imageTwo stars means the confide [...]
28/12/2009 07:45
After returning to work from the Thanksgiving holiday, I was asked by Marc and Janet if my 23andme report contained anything about Gout. Janet said Gout was a topic of conversation while visiting with her family. Sure enough, I found Gout listed in my elevated-risk section of the Research Report. (Remember, the information in the research report section “has not yet gained enough scientific consensus to be included in [23andme’s] clinical report.”Click to enlarge imageTwo stars means the confide [...]
Pass the Turkey, Pie, Football, … and Family Health History
24/11/2009 01:00
Because Thanksgiving Day is also Family Health History Day, we’ve decided to suspend showing results from my 23andMe report for this post and review Family Health History activities Intermountain Healthcare’s Clinical Genetics Institute is leading. We consider clinically-used family history to be the cheapest and most effective genetic test today.PrologueFormer Secretary of HHS Mike Leavitt tells a story of when he was governor of the State of Utah. A research program to find the genetic cause f [...]
24/11/2009 01:00
Because Thanksgiving Day is also Family Health History Day, we’ve decided to suspend showing results from my 23andMe report for this post and review Family Health History activities Intermountain Healthcare’s Clinical Genetics Institute is leading. We consider clinically-used family history to be the cheapest and most effective genetic test today.PrologueFormer Secretary of HHS Mike Leavitt tells a story of when he was governor of the State of Utah. A research program to find the genetic cause f [...]
My Family History of Heart Disease … I Think
06/11/2009 07:00
With November proclaimed to be Family History Awareness month, I thought I would write about a medical condition that runs in my family. But to what extent my relatives had this disease, or what it means for my risk, I’m not sure. If a doctor were to ask me if I have a family history of heart disease, my first response would be no. I’m not aware of any 1st, 2nd, or even 3rd degree relatives who have had heart attacks. But wait… My father did have that double bypass 12 years ago… It’s funny how I [...]
06/11/2009 07:00
With November proclaimed to be Family History Awareness month, I thought I would write about a medical condition that runs in my family. But to what extent my relatives had this disease, or what it means for my risk, I’m not sure. If a doctor were to ask me if I have a family history of heart disease, my first response would be no. I’m not aware of any 1st, 2nd, or even 3rd degree relatives who have had heart attacks. But wait… My father did have that double bypass 12 years ago… It’s funny how I [...]
Do You Know Alpha-1 Antitrypsin Deficiency?
19/10/2009 14:45
Let me confess this upfront. Until I met John Walsh at the 2008 Genetic Alliance conference, I was not familiar with the genetic disorder called Alpha-1 Antitrypsin Deficiency (AATD). John is one of the founders and President of AlphaNet. Since then I have learned that AATD, a genetic mutation, reduces the levels of a protective protein in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease.John had attended a presen [...]
19/10/2009 14:45
Let me confess this upfront. Until I met John Walsh at the 2008 Genetic Alliance conference, I was not familiar with the genetic disorder called Alpha-1 Antitrypsin Deficiency (AATD). John is one of the founders and President of AlphaNet. Since then I have learned that AATD, a genetic mutation, reduces the levels of a protective protein in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease.John had attended a presen [...]
Can Men Understand BRCA?
05/10/2009 16:45
I was surprised when 23andMe added selected BRCA cancer mutations to the Carrier Status list in February of 2009, especially since everybody knows that Myriad Genetics holds a controversial patent to the BRCA1 and BRCA2 genes. Because Myriad is a Salt Lake City-based company, we watch them closely. And more importantly, I have a personal story with Myriad BRCA testing and a family member - which I will share at the end of this post.The UPDBMyriad originated in 1991 as a gene discovery company. T [...]
05/10/2009 16:45
I was surprised when 23andMe added selected BRCA cancer mutations to the Carrier Status list in February of 2009, especially since everybody knows that Myriad Genetics holds a controversial patent to the BRCA1 and BRCA2 genes. Because Myriad is a Salt Lake City-based company, we watch them closely. And more importantly, I have a personal story with Myriad BRCA testing and a family member - which I will share at the end of this post.The UPDBMyriad originated in 1991 as a gene discovery company. T [...]
The Risk Type I Have For Diabetes
21/09/2009 14:45
From the list of 10 diseases that 23andMe reports on, three were listed in the Elevated Risk category. We have already posted on Crohn’s disease and Prostate cancer. The remaining one is Type I Diabetes. I am lucky that I do not suffer from any of these conditions, but I value the opportunity this experience has given me to learn about them, what my risks might be, what can I do about it, and what should I discuss with my doctor if symptoms arise.Click Image to Enlarge Last UpdatedFrom the graph [...]
21/09/2009 14:45
From the list of 10 diseases that 23andMe reports on, three were listed in the Elevated Risk category. We have already posted on Crohn’s disease and Prostate cancer. The remaining one is Type I Diabetes. I am lucky that I do not suffer from any of these conditions, but I value the opportunity this experience has given me to learn about them, what my risks might be, what can I do about it, and what should I discuss with my doctor if symptoms arise.Click Image to Enlarge Last UpdatedFrom the graph [...]
I Want A New Drug - One That Matches My Genotype
08/09/2009 07:45
For the readers who are just beginning to follow this blog, please know that the posts of my experience with the 23andMe service are sequential. A list of past blog posts can be found below our pictures on the right. Reading the first post entitled What Is This All About is recommended to follow this journey in context.Exploring 23andMe's Pharmacogenomic InformationThe FDA website tells us that “genomic biomarkers can play an important role in identifying responders and non-responders, avoiding [...]
08/09/2009 07:45
For the readers who are just beginning to follow this blog, please know that the posts of my experience with the 23andMe service are sequential. A list of past blog posts can be found below our pictures on the right. Reading the first post entitled What Is This All About is recommended to follow this journey in context.Exploring 23andMe's Pharmacogenomic InformationThe FDA website tells us that “genomic biomarkers can play an important role in identifying responders and non-responders, avoiding [...]
Prostate cancer - Part 2
24/08/2009 14:45
This is a follow-up from our August 10th post. If you missed it, start here.Normally Grant writes about a topic from his 23andMe report, followed by commentary from two healthcare providers, Marc Williams and Janet Williams (who happened to be related by marriage - to each other). For this post we reverse the order.Perspective from a Certified Genetic CounselorAs someone who works with individuals who are seeking risk assessment for familial cancer, Grant’s result is really frustrating. What in [...]
24/08/2009 14:45
This is a follow-up from our August 10th post. If you missed it, start here.Normally Grant writes about a topic from his 23andMe report, followed by commentary from two healthcare providers, Marc Williams and Janet Williams (who happened to be related by marriage - to each other). For this post we reverse the order.Perspective from a Certified Genetic CounselorAs someone who works with individuals who are seeking risk assessment for familial cancer, Grant’s result is really frustrating. What in [...]
The Big PC – What Men Fear Most
10/08/2009 14:45
Although my relative risk for Prostate Cancer came in third behind Crohn’s Disease and Type 1 Diabetes, the absolute risk of 24% certainly got my attention. It was the second item I clicked on after looking at Crohn’s. At my age I am supposed to be paying more attention to prostate screening guidelines, but I haven’t been. This risk score may provide a good incentive to do so. Let's read further to see if that’s true.A quick Google search on recent prostate cancer announcements returned several [...]
10/08/2009 14:45
Although my relative risk for Prostate Cancer came in third behind Crohn’s Disease and Type 1 Diabetes, the absolute risk of 24% certainly got my attention. It was the second item I clicked on after looking at Crohn’s. At my age I am supposed to be paying more attention to prostate screening guidelines, but I haven’t been. This risk score may provide a good incentive to do so. Let's read further to see if that’s true.A quick Google search on recent prostate cancer announcements returned several [...]
Carrier Status – Do you have your tracking number?
27/07/2009 19:30
Before we review my two other elevated disease risks items (see last post), let’s take a first look at one of the other categories in the clinical report – Carrier Status. The report includes possible variants for eight diseases. I am only a carrier for one; Hemochromatosis. I did click that one first to find out what it was, but I will address that in a later post. Because my work involves supporting programs around expanded newborn screening, I will start with Cystic Fibrosis (CF), which is on [...]
27/07/2009 19:30
Before we review my two other elevated disease risks items (see last post), let’s take a first look at one of the other categories in the clinical report – Carrier Status. The report includes possible variants for eight diseases. I am only a carrier for one; Hemochromatosis. I did click that one first to find out what it was, but I will address that in a later post. Because my work involves supporting programs around expanded newborn screening, I will start with Cystic Fibrosis (CF), which is on [...]
The Grand Opening - Looking Inside My Genetic Crystal Ball
13/07/2009 15:15
When I tell people that I completed a 23andMe test, they all seem to have the same reaction. The question they ask is – so when are you going to die, and of what disease?I am supposed to know enough about interpreting genetic information to prevent me from responding the same way. However, I have to admit that deep down the same emotionally-based thoughts did exist. Because of our imminent mortality, it is natural for us to ask whether we will learn something about our futures from these types o [...]
13/07/2009 15:15
When I tell people that I completed a 23andMe test, they all seem to have the same reaction. The question they ask is – so when are you going to die, and of what disease?I am supposed to know enough about interpreting genetic information to prevent me from responding the same way. However, I have to admit that deep down the same emotionally-based thoughts did exist. Because of our imminent mortality, it is natural for us to ask whether we will learn something about our futures from these types o [...]
Research 2.0 - For the genetic extrovert in all some of us
29/06/2009 14:45
Identifying the ‘gene-which-senses-danger-ahead’ was not part of the 20+ traits my 23andMe genetic service report promised to include. I think lacking that gene is true for all of us who have consented to allow 23andMe to use our genetic information to conduct the 23andMe authorized scientific research. I prefer to claim I have the adventurer/explorer gene - it sounds more glamorous.The New Open ParadigmMy first exposure to the concept of sharing personal medical information was a website called [...]
29/06/2009 14:45
Identifying the ‘gene-which-senses-danger-ahead’ was not part of the 20+ traits my 23andMe genetic service report promised to include. I think lacking that gene is true for all of us who have consented to allow 23andMe to use our genetic information to conduct the 23andMe authorized scientific research. I prefer to claim I have the adventurer/explorer gene - it sounds more glamorous.The New Open ParadigmMy first exposure to the concept of sharing personal medical information was a website called [...]
Reading about Consents, Risks, and Privacy - Now the Fun Starts
15/06/2009 14:45
I remember how excited I was when the test kit arrived in the mail. It felt so new millennium. Ordering the test online was in fact easier than buying an airline ticket - and compared to many fares, even less expensive! I was also lucky that the Utah Department of Health officials were not overly zealous like those from New York and California. I was still allowed the choice to investigate my biology on my own terms. But 23andMe made sure I read several pages of Consent, Risk, and Privacy polic [...]
15/06/2009 14:45
I remember how excited I was when the test kit arrived in the mail. It felt so new millennium. Ordering the test online was in fact easier than buying an airline ticket - and compared to many fares, even less expensive! I was also lucky that the Utah Department of Health officials were not overly zealous like those from New York and California. I was still allowed the choice to investigate my biology on my own terms. But 23andMe made sure I read several pages of Consent, Risk, and Privacy polic [...]
What is this all about?
01/06/2009 18:00
Germany recently passed a new law significantly limiting the use of direct-to-consumer (DTC) genetic tests, which can only be carried out by a licensed doctor following the patient’s consent. In response, the UK–based PHG Foundation, an independent not-for-profit public health organization focusing on genome-based science and technologies to improve health, calls this law “a regressive and paternalistic approach that takes genetic exceptionalism to an extreme not seen in other jurisdictions”.Bec [...]
01/06/2009 18:00
Germany recently passed a new law significantly limiting the use of direct-to-consumer (DTC) genetic tests, which can only be carried out by a licensed doctor following the patient’s consent. In response, the UK–based PHG Foundation, an independent not-for-profit public health organization focusing on genome-based science and technologies to improve health, calls this law “a regressive and paternalistic approach that takes genetic exceptionalism to an extreme not seen in other jurisdictions”.Bec [...]