Friday, November 13, 2015

23andme Part 2 Interview with Claire


Please note that we encourage you to consult with your Physician with any questions.  If you are looking to get tested for Porphyria we have labs in the US that would be able to help you get a proper diagnosis.  For the nearest Porphyria Lab please call 1-866-APF-3635

Part 2 Interview with 23andme Rep:

Information from Porphyria Expert Dr Desnick:
DNA Diagnosis of Porphyria- Important Clarifications  
by:  Robert Desnick, M.D., PhD. 

 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have “DNA confirmed Porphyria”. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.

A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an “#rs” number. These benign changes are quite common but may lead a patient to believe that he/she has one or more porphyrias. They do not affect the heme biosynthetic enzymes, as they are not pathologic lesions. Of the gene lesions that cause disease, over 98% would be identified by gene sequencing as is done for all the Porphyrias at the Mount Sinai Laboratory and four Porphyrias at the Mayo Laboratory.

The Mount Sinai Genetic Testing Laboratory provides Porphyria DNA testing for all eight Porphyrias, and has a full-time Porphyria Genetic Counselor, Dana Doheny, MS, who is available to assist in arranging testing and interpreting the results. Typical time from receipt of sample to result is about two weeks. If the patient has “biochemical-positive” results and a DNA alteration cannot be found, there is a 1-2% chance that the patient has a “cryptic” mutation or a large deletion in the porphyria gene that is difficult to find by sequcning. The Mount Sinai Laboratory will do additional analyses to find the Porphyria gene lesion, if the patient has one. 

Mayo Laboratories test for only three of the four Acute Porphyrias and for Erythropoietic Protoporphyria. To our knowledge they provide sequence results, and do not report polymorphisms..

Desiree notes: Dr Desnick is one of the most famous genetisists in the world.  In fact, he is one of  only three board certified in the US.  See what he has to say about 23 and me. etc.

I emailed and did an interview with Claire @ 23andme

First question: Amy Apf, Oct 13, 9:15 AM:
Question can you diagnose diseases such as Porphyria Disease which is very rare and done by genetic testing only. I would like a response to this as this has caused much confusion. DNA and RNA testing for Porphyria research can only be done through a few places in the world. Do you have a solid explanation for this. Many people are sending their kits in to you saying yes they have this deadly disease but when tested properly with Labs such as blood, urine and feces through DNA they do not have it and thus have there diagnosis taken away or worse cant receive the needed medication because Porphyria disease is a registered Orphan Rare disease. PLEASE EXPLAIN
You can update your support request by replying to this email with additional comments or by following this link:customercare.23andme.com/hc/requests/371546

Answer: Clare, Oct 13, 1:26 PM:

Hello,

Thank you for contacting the 23andMe Team. No, 23andMe is not and has never been a diagnostic service.23andMe Services are for research, informational, and educational use only. We do not provide medical advice and the service has not been approved by the FDA for diagnostic testing.

Additionally, 23andMe does not provide health reports to customers who have purchased on or after November 22, 2013. Per an ongoing regulatory review with the FDA, new customers receive uninterpreted raw genetic data, as well as ancestry information.

Even when health information was available, porphyria was not a topic addressed by our health reports.

Please let us know if you have any additional questions.

Best Regards,

Clare

The 23andMe Team

Statement to Claire:  I must say that thousands are flocking to your website for all sorts of disease both common and rare to receive all their medical input as you are the bible for diagnosing ppl.  Do you know that this is happening and telling a few thousand people and others with a rare disease that for a few hundred bucks all there questions r solved they bring this info to there Drs and dr say sure you have it and if they were to get true genetic testing which is very expensive 4-8 k out of pocket no ins pays for this and must wait months 12 plus weeks for a true diagnoses.  Then when they get 23 and me testing done they are entitled to costly medications and if diagnosed or implied a diagnose it could cost them their life.  our medications r like chemo pricing hundreds of thousands of dollars an orphan drug approved by FDA I think there should be a big disclaimer and a clearer picture of what your services provide this is serious you don't even know.  How do you fix this I would like the head person to email me his plans to help clarify your services and products what it does not due!  Please explain my dilemma

Answer from Claire:  We have had many other instances and we need an explanation or statement  Please look at what an Expert Dr of Porphyria @ MT Sinani NY has said regarding testing and here is an example of what patients are telling people to do does this seem right to you.  We would like Andew Page to respond or someone in Corporate this is outrageous. 

DNA Diagnosis of Porphyria- Important Clarifications  
by:  Robert Desnick, M.D., PhD. 

 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have “DNA confirmed Porphyria”. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.

A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an “#rs” number. These benign changes are quite common but may lead a patient to believe that he/she has one or more porphyrias. They do not affect the heme biosynthetic enzymes, as they are not pathologic lesions. Of the gene lesions that cause disease, over 98% would be identified by gene sequencing as is done for all the Porphyrias at the Mount Sinai Laboratory and four Porphyrias at the Mayo Laboratory.

The Mount Sinai Genetic Testing Laboratory provides Porphyria DNA testing for all eight Porphyrias, and has a full-time Porphyria Genetic Counselor, Dana Doheny, MS, who is available to assist in arranging testing and interpreting the results. Typical time from receipt of sample to result is about two weeks. If the patient has “biochemical-positive” results and a DNA alteration cannot be found, there is a 1-2% chance that the patient has a “cryptic” mutation or a large deletion in the porphyria gene that is difficult to find by sequcning. The Mount Sinai Laboratory will do additional analyses to find the Porphyria gene lesion, if the patient has one. 

Mayo Laboratories test for only three of the four Acute Porphyrias and for Erythropoietic Protoporphyria. To our knowledge they provide sequence results, and do not report polymorphisms..

Desiree notes: Dr Desnick is one of the most famous genetisists in the world.  In fact, he is one of  only three board certified in the US.  See what he has to say about 23 and me. etc.
Please note a mutual client has suggested:

Member of Porphyria Statement:  "Do yourself the biggest favor and bypass all labs and go directly online to 23andme.com and get your DNA done.  then take the raw data to livewello.com to interpert the raw data into understandable reports.  Best thing that I ever did. In 19__ the lab tests only showed that I had porphyria not what kind.  The genetic test revealed that I have 2 kinds HCP and EPP.  No percription needed, private and all for under 200.00"

APF:  While anything is possible having one types of porphyria is vary rare in itself so to say two types a one that is acute and one that cuteanous.  We have Porphyria centers around the world and encourage all persons to locate the nearest porphyria center in the country you live in to get genetic testing done.  DNA testing does average 8 weeks or more but then you will have the answers from DNA testing.  1-866-APF-3635


Not only this is horrible advice to give from patient to patient but the fact that she said she was told to do this by your company or not this is true please clarify this is a rare orphan disease DNA is the way to diagnose the only way so anything your company can help us to distinguish would be so helpful not to tear away from sales profits or helping people but they must be a way to explain it better.

Amy Apf, Nov 9, 11:58 AM:
We have had many other instances and we need an explanation or statement Please look at what an Expert Dr of Porphyria @ MT Sinani NY has said regarding testing and here is an example of what patients are telling people to do does this seem right to you. We would like Andew Page to respond or someone in Corporate this is outrageous.

Clare, Nov 11, 11:31 AM:
Hi Amy,
Thank you for bringing this to our attention. The 23andMe Personal Genome Service should not be used as a substitute for a physician's advice. We take measures to make this clear to our customers.

The 23andMe Personal Genome Service has never had a health report on Porphyria. We do provide customers with access to their raw data, however, we note the statement at the top of our "Browse Raw Data" page has key limitations with regard to the data, including the following: "...This data has undergone a general quality review however only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe's Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical or other use."

We also direct your attention to Section 5 of our Terms of Service: Risks and Considerations
Regarding 23andMeServices, which reads "The Genetic Information provided by 23andMe is for research, informational, and educational use only...The Services are not intended to be used by the customer for any diagnostic purpose and are not a substitute for professional medical advice. You should always seek the advice of your physician or other health care provider with any questions you may have regarding diagnosis, cure, treatment, mitigation, or prevention of any disease or other medical condition or impairment or the status of your health." The Terms of Service document is presented during registration and must be agreed to prior to customers receiving their reports or other personalized information through our service. A link to our Terms of Service also can be found at the bottom of each page on our website, and is provided here for your reference: https://www.23andme.com/about/tos/
Please let us know if you have any further questions.

Best regards,
The 23andMe Team

So according to Claire @ 23andme.com they DO NOT diagnosis Porphyria Disease.  Thus they ask you to refer you to your Doctor, if your Dr needs care on how to test, diagnosis or treat a patient with any of the porphyria's the APF has a wonderful database of Doctors that can help.  Please call for a free patient packet or have a Dr Kit sent to your Physician by calling 1-866-APF-3635

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                          "Remember....Research is the key to your cure!"

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