Brad Initial Meeting and Blood Draw
Meeting with Dr. Rubinstein, Medical Geneticist, Scott Weismann, Genetic counselor.
>> My comments after double brackets
>> We started with a conversation about how SandraÂs initial testing for the BRCA gene came back inconclusive. I was surprised by this, as I was under the impression that genetic testing was fairly black and white. This is something I want to learn more about.
On risks for developing HDGC
Q. Center for Medical Genetics letter to my mother states a 67% chance for males, who test positive for CDH1, of developing gastric cancer. Help me understand how this result was reached and how accurate it is? I understand less than 50 families have been studied. Are people confirming this result?
A. This number is probably slightly conservative (high). There are families that have not been part of any study because their stomach cancer didnÂt stick out, and they never got hooked up with Huntsman or anyone studying this disease. If their numbers were included, it may push this percentage down. I should consider how low this number would need to go before deciding on a different course of action.
Huntsman group is up to about 130 families.
Q. What information do we have on environmental factors as they relate toHDGC (diet, alcohol, caffeine)? My mom says alcohol and caffeinare goodod for me :-)
>> Didn't ask this question
Q. Concerns about male breast cancer
A. This is something to consider. Overall male population has an extremely low percentage chance of getting this. With this gene, the highest the percentage would go is 6%. He said I should consider a clinical breast exam.
>> we didnt get good notes on this, this might have been related to the BRCA gene
Q. Concerns about colon cancer
A. No good data at this point. People are running studies. If I wanted to be conservative I could consider a colonoscopy. Under normal circumstances, colonoscopy is recommended at age 50.
On surgery vs surveillance
Q. I'm learning that this cancer hides in the lining of the stomach, then in a short time crosses that line, and heads into other parts of the body. Is this correct? What do you know about how quickly these cancer cells grow/metastasize?
A. This cancer can grow very fast, and in less than 6 months reach outside of the stomach.
Q. Letter from BC Cancer Agency to Scott Weisman, about my mother,paragraph 4, "Both of these options are part of a research protocat thishis time." What can you tell us about this protocol?
>> this sentence referenced a study being done by HuntsmanÂs group apparently studying the effectiveness of endoscopy/chromoendoscopy vs stomach removal
A. They will look into this for me.
Q. Can you comment on article found by a relative (from Mike's web site),that concludes chromoendoscopy could be as good as proph gastrectomy?
A. They are not familiar with this article, and will look into it.
Q. Do you know of any other studies going on currently that exploring otherther surveillance techniques?
A. They have been exploring this recently. They understand that colon cancer has a new screening technique using a special light.
>> Scott didnt have a good description of this
This isnt a formal study, and lots of work would need to be done to draw any strong conclusions.
Q. Are any credible doctors not recommending prophylactic gastrectomy?
A. None that they know of. Dr. Rubinstein has been consulting with Dr. Henry Lynch associate with Northwestern. (http://www.enh.org/healthandwellness/clinicalservices/genetics/specialists/default.aspx?id=1108). He is recommending stomach removal. She has also consulted with Dr. James Ford of Stanford (http://jamesfordlab.stanford.edu/). He recommends stomach removal. We know Huntsman recommends the stomach removal.
On children
Q. If I test positive at what age should my children start testing?
A. 18 - 20 is what the recommend. Factors in consideration:
- No childhood cancers linked to this gene
- Occurrence at a young age is very rare
- As children tend to have lots of stomach aches/etc, need to consider how people are likely to react through these years, added stress/anxiety
- You are taking away from your children their ability to make a decision about this genetic knowledge
Insurance
>> this is a really complicated area, please be careful relying on this information
Q. What do we need to consider?
A. HIPPA covers lots of situations when moving from Large group to Large group:
- cannot be denied entrance into group
- cannot raise your individual rates
HIPPA does not cover Large group to Small group or Large group to Private Insurance.
Some large group policies do have riders for preventive treatments. Stomach removal surgery would be considered preventive.
While in HIPPA and Illinois law have specific language around genetic results, the way to approach insurance companies is to avoid providing specific information about a genetic test or test results. When possible try getting coverage by saying Family History of Cancer. If this fails use People in my family have this cancer.
Illinois law specifically says health care companies cannot request or require genetic testing results.
All bets are off for other types of insurance (life, disability, etc).
Short term actions
Q. How quickly should I get an endoscopy?
A. Genetic test esults come back in 2-3 weeks. No need to rush out immediately, but you might want to get your ducks in a row.
>> they have a list in their office, they will help us with. Dr. Waxman of Univ of Chicago, which Julie and Mike have started communication with, is on the Chicago Best Doctors list, and is on their list
Q. What doctor in the Chicago area is the most knowledgeable on thissubject beside yourself?
Q. will discuss at next appt.
Q. Is their another in-town, or out-of-town hospital/doctor (e.g U of C,Sloan Kettering) that would be valuable to consult with?
Q. Who is the best GI surgeon in the area for proph gatrectomy?
>> My comments after double brackets
>> We started with a conversation about how SandraÂs initial testing for the BRCA gene came back inconclusive. I was surprised by this, as I was under the impression that genetic testing was fairly black and white. This is something I want to learn more about.
On risks for developing HDGC
Q. Center for Medical Genetics letter to my mother states a 67% chance for males, who test positive for CDH1, of developing gastric cancer. Help me understand how this result was reached and how accurate it is? I understand less than 50 families have been studied. Are people confirming this result?
A. This number is probably slightly conservative (high). There are families that have not been part of any study because their stomach cancer didnÂt stick out, and they never got hooked up with Huntsman or anyone studying this disease. If their numbers were included, it may push this percentage down. I should consider how low this number would need to go before deciding on a different course of action.
Huntsman group is up to about 130 families.
Q. What information do we have on environmental factors as they relate toHDGC (diet, alcohol, caffeine)? My mom says alcohol and caffeinare goodod for me :-)
>> Didn't ask this question
Q. Concerns about male breast cancer
A. This is something to consider. Overall male population has an extremely low percentage chance of getting this. With this gene, the highest the percentage would go is 6%. He said I should consider a clinical breast exam.
>> we didnt get good notes on this, this might have been related to the BRCA gene
Q. Concerns about colon cancer
A. No good data at this point. People are running studies. If I wanted to be conservative I could consider a colonoscopy. Under normal circumstances, colonoscopy is recommended at age 50.
On surgery vs surveillance
Q. I'm learning that this cancer hides in the lining of the stomach, then in a short time crosses that line, and heads into other parts of the body. Is this correct? What do you know about how quickly these cancer cells grow/metastasize?
A. This cancer can grow very fast, and in less than 6 months reach outside of the stomach.
Q. Letter from BC Cancer Agency to Scott Weisman, about my mother,paragraph 4, "Both of these options are part of a research protocat thishis time." What can you tell us about this protocol?
>> this sentence referenced a study being done by HuntsmanÂs group apparently studying the effectiveness of endoscopy/chromoendoscopy vs stomach removal
A. They will look into this for me.
Q. Can you comment on article found by a relative (from Mike's web site),that concludes chromoendoscopy could be as good as proph gastrectomy?
A. They are not familiar with this article, and will look into it.
Q. Do you know of any other studies going on currently that exploring otherther surveillance techniques?
A. They have been exploring this recently. They understand that colon cancer has a new screening technique using a special light
>> Scott didnt have a good description of this
This isnt a formal study, and lots of work would need to be done to draw any strong conclusions.
Q. Are any credible doctors not recommending prophylactic gastrectomy?
A. None that they know of. Dr. Rubinstein has been consulting with Dr. Henry Lynch associate with Northwestern. (http://www.enh.org/healthandwellness/clinicalservices/genetics/specialists/default.aspx?id=1108). He is recommending stomach removal. She has also consulted with Dr. James Ford of Stanford (http://jamesfordlab.stanford.edu/). He recommends stomach removal. We know Huntsman recommends the stomach removal.
On children
Q. If I test positive at what age should my children start testing?
A. 18 - 20 is what the recommend. Factors in consideration:
- No childhood cancers linked to this gene
- Occurrence at a young age is very rare
- As children tend to have lots of stomach aches/etc, need to consider how people are likely to react through these years, added stress/anxiety
- You are taking away from your children their ability to make a decision about this genetic knowledge
Insurance
>> this is a really complicated area, please be careful relying on this information
Q. What do we need to consider?
A. HIPPA covers lots of situations when moving from Large group to Large group:
- cannot be denied entrance into group
- cannot raise your individual rates
HIPPA does not cover Large group to Small group or Large group to Private Insurance.
Some large group policies do have riders for preventive treatments. Stomach removal surgery would be considered preventive.
While in HIPPA and Illinois law have specific language around genetic results, the way to approach insurance companies is to avoid providing specific information about a genetic test or test results. When possible try getting coverage by saying Family History of Cancer. If this fails use People in my family have this cancer.
Illinois law specifically says health care companies cannot request or require genetic testing results.
All bets are off for other types of insurance (life, disability, etc).
Short term actions
Q. How quickly should I get an endoscopy?
A. Genetic test esults come back in 2-3 weeks. No need to rush out immediately, but you might want to get your ducks in a row.
>> they have a list in their office, they will help us with. Dr. Waxman of Univ of Chicago, which Julie and Mike have started communication with, is on the Chicago Best Doctors list, and is on their list
Q. What doctor in the Chicago area is the most knowledgeable on thissubject beside yourself?
Q. will discuss at next appt.
Q. Is their another in-town, or out-of-town hospital/doctor (e.g U of C,Sloan Kettering) that would be valuable to consult with?
Q. Who is the best GI surgeon in the area for proph gatrectomy?
posted by BradG @ 8:56 PM
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