>> i think we will go straight on to dr. aitman, and then we will take questions from both. thank you. >> i want to thanj the organizations for the hospitality. and as i'm sure you've all gathered, this is very exciting time for genetics and for this talk. not only because of the interest in direct consumer testing, but also because of the rapid

advances in genetics thatave already been refred to b one or two of the speakers, and the fact that there's knowledge and technologiesf t potential flight to health care which is the maj topic for this meeting. so as shown on this slide here, i have three rolls that has been relevant to this workshop. i have a chair of genetic at the imperial college, i'm a commissioner for the uk genetics commission, and i've recently been the special isby the report recented published by the house of lords gentlemennic medicine inquiry. i'm not representing my role here. but the views that i'm giving are my personal views. there have been several reports, much activity over the past six or seven years in the uk.

the human genetic commission considered consumer testing in 2003. and that was about the same time as the government produced the white paper for our future which had a major impact on the way that genetics was viewed on the health services. much more recently, there's an art state on the human commissioner report and in the present calendar year, there's been a consultation initially -- internal consultation by the human genetics commission on direct-to-consumer testing and a public consultation for this is about the publiy available or what is already available for the workshop. the inquiry was quite far reaching. it dealt with the ways in which

all genome technology and genetic knowledge could be applied to clinical practice. one particular chapter of that referred to direct consumer testing. we turned already to t fda. there are a number of regulate authorities which are listed here in the advisory board including the uk genetic testing which isess work for single gene disorders, national institute, which i a body this adviced on the clinical utility and effectiveness on the new drugsnd the humanenetics commission which is th uk government's advisory body on genetic testing. there are a couple of devices which was initially enacted by the european union in 1998, it

has undergone a number of provisions since the human tissue act in 2004. i d't need to remind this audience that genetic diseases are important. and they could broadly be separate into the gene disorder which is generally rare. and there's a fairly clear relationship between the gene and the disease and genetically complex disorder where they have a complicateed -- and many of us are effected by some of these included -- we have referred to this slide. we thought there were eight diseases that were cloned in 2002. but the dramatic changes did not occur up until 26 that

suddenly started to occur in 2006 and seven and now 2008. so this knowledge is very fresh, and no some ways it's not surprised that the opinions in which this knowledge can be used. now the reason for drawing this distinction here is diagnostics of the single-gene disorder which has a protocol on the gene does seep the protocol for improving new diagnostic for the common diseases of which there is no formal body, at least in the uk. so i'd like just to briefly summariz what the report that i illuded to earlier has noted and suggested. and the gene's direct report in 2003 recognized three types of access to genetic tests through the national health service or

private doctors through nonmedical media on the complimentry, and direct-to-consumer test are applied to the sond and third. and although the knowledge for the cookie benefits for the direct-to-consumer, the genes directort felt if there was to be benefits, first their needed to be mechanisms so ensure that only eye quality tests were mketed, and then it was important to make sure the companies don't misuse the power of genetics as a mark of something we've already come ross. and if there were possible harms for the consumer, they needed to be identified and prevented. so that was some recommendations that came out of theenes direct report. certainly that there should be stricted controls but that there shouldn't be to creep out.

and i think thiis a debate that's happened in the united states and some of the states have taken a different vie on it. that needed to be well funded test through the national health service on one of the results of both the report on the couple of white paper that was 50 million pounds were released to improve the genetic services. and this is dramatically improved the infrastructure, managing that genetic disorder that really only apply to single gene disorders. it's recommended that most genetic test which provide predictive health iormation, and i think one has to now reappraise what predictive health information is. in the context is meant single gene disorders. and they discourage the use of testing or home softening. now i think the second apart from the funding that came from the white paper.

the second most important recommendation was the introduction of a new offense on the misuse of genetic information. and i don't know whether this was similar statute in the usa, but this is the whole of our thinking about genetic testing since it was introducein 2004. so the statute under which it was considered the human tissue act in 2004 and it is confined thenalysis of dna when a person is thought to have committed an office if he or she has any bodily material that any human dna material is analyzed without qualiing consent. this phrase here is what is common come into power with the dna theft. and this is to protect some people with very high-profile individuals and the rest was used as taking theoffee cup.

and then being able to assign personality traits and all other trails throughout dna that can be extracted. it's quite a serious was. it c be punishable with a fine or imprezment. and it has yet to be aware of testing up to five years. now the genes direct report ao commented from the rulations board of genetic testing which was r hasn't at time. and as i mentioned the relevant directive is t european union directive called invitro, but essentially this is a statute that has to be regulated by the member states or authority. and in the uk this authority is

the health care agency. and so any products for commercial use have to meet the requirements of the directors. now it's fair to say that in 2003 there was a lot of uncertainty or the genetic testg and whether these were counted under the ddp pause they could be thought to be lifestyle to whether one considered this is the practice of medicine or whether this is a thing about lifestyle. and that is on the distinction that was n cle. now in more genes direct, which is the upstate on the first report thawas published in -- it was published in 2007. the human genetic commission game down more firmly on their view about where genetic testing in relation to the directors.

an essentaally it felt that most genetic tests were cared to be a low-risk in a category of four. and therefore the implications of this of the manufacturer are not required to submit any technical fes to the nhra. this means no premarket requirement is sufficient. now at the present time, the other component of this is a marketing. and none of the advertising standards or the authority all of the officers that are trading have authori to regulate content of the internet. and this bngs a big issue that direct-to-consumer testing is going to regate the international market and talking about international greens. i should update this by saying

that at the present time the genetic testing wasow risk and the human genetic testing have reviced their opinion and feels this should be reclassed if -- reclassified and there's no genetic testing in the uk and eu is considered to be low risk. so the last issue is gene director that i just illuded to is t genetic test by the internet cannot b easily regulated. in order to promote, the human genetic commission express the desires in other countri. this is the prilege to be here. why the consultation we regard as being important which could be considered as a frame work for international corporation of direct-to-consumer testing is something we would like to have feedback on.

so to address this major problem of the international direct-to-consumer testing, we held a seminar in june 2008 where ere was a wide range of state holders that rresented including decode genetic and one of the conclusions which was strongly supported b the direct-to-consumer testing was they would like to support the code of practice based on t frame work of principals. the reason for that was the company's health and the intest for the representative here today. the companies felt that if they were doing good practice they would be protected by having a set of frame work of principals that they could adhere to. and so this led to the development of the common fme work of principals which i will move on to now. so the consultation period is about to begin. the draft frame work of

principals has been published and will be available on the web site, i hope tomorrow. and just because of the time, it's -- i'm not going to go into all of these principals, but i wi highlight the most important. the frame work could affect all of the jurisdictions. the firs principals needed to provide the high quality service and needed to meet the customer expectations. this is what he would have rerred to a analytil. secondedly, of the 10th sport inherented disorders and again the definition of what is inherited and what is a lifestyle disorder needs to be defined. and that is part of the question

for the consultation. but they should only be provided with individualized preand post test counseling and part of the process of marketing is that dhe provider should compel with other local legislation o national guidelines or international guidelines on advertising. the second set of principals is that the promotional plans should describe the characteristic tax and on fire by the providers should supply the other information to the thoughts including like the outcomes of the test as we have discussed earlier and the genetic test shouldnly be carried out after the person confirmed has given consent. then the provider has to make sure they are happy. finally, this is a almost an exception but a very important exception, is that were these genetic test relate to cldren, in general, genetic test should

be delayed until the age of consent, until the child can giveonsent themselves unless there is a clinically important reason why that test should be carried out before the child reacd the age of consent. the web site is there. i think we will circulate the details of the consultation. i'd just like to add if i have a few more minuter on my personal views abt the direct-to-consumer test which will pass the material during the process of advicing on the genetic report. so in a response, especially i supposed it's inevitable that witnesses that gave evidence of the report held a wild range of views about the direct-to-consumer tests. we have the report including martin and he was looking at

mode 23andme on the web site there. and it is valid and medically irrelevant, and it's very much question on if you want to do that, that's your business. ron jimmerman who is regarded on health in the uk said he couldn't see anything in a free society to suggest that we should stop people havg the n direct-to-consumer test of 4% lower risk of heart disease, but he believes the direct-to-conser tests will be useless. the frame by one of our major international newspapers with the genetic testing is useless. we're away we have to be careful. now the other side of the coin was reay prevented bmr.

donoly and like myself i would think he would be enthusiastic. he said he believes the direct-to-consumer is likely to have the national health service in part because of the public health phycian and these are a service that would be incorporated into the routine clinical practice. there is a possibility that he's going to take the example of maybe when these tests can scream for 40 diseases. even if only one or 2 forest of -- 2% of the individuals if each of them accounts for high risk for the individuals and if there's a whole range of diseases that i know fm my genetic which 2 or 3 that have high risk. let me show you in a moment the medical intervention that could

make a difference. and he said with the time scale when these would come into rue teak practice. he said he'd be surprised. i'm going to give two examples of where i think these things ght make a difference orhy they might be viewed as importance. the the first one is in the context of 35% of the popation at some stage in their life. according to the latest result, for 9 of the validated, if you separate the population into steps five equal groups and treat the lowest because they don't have any of the marks, they have a refer ratio of 1 hadn't -- 1.4.

the other part has 2.2. they have more than double the risk compared to the lowest. is that important? well, twofold is important in the context of public health. if you look at the early pattern for the primary health disease, we would all accept that the prevent or delay the onset of heart disease. and these are the pattern with the second degree preventn and primary prevention. if you look at the bodies that have theargest effect which is a forest study, it changed from the risk of arrange 22 or 23% to a risk of around 15%. that's more than in the reduction. so the reduction of cholesterol is very comparable to the risk. for breast cancer, we heard this also for prostate cancer, the study which was published in the

journal last june looked at the part of the population that would achieve a certain risk that could be considered being the threshold for screening for mammography. it's offered to women at age of 50 in the uk. that is based on the riskf 2.3% over 10 years. now at the present time, it is offered to women at 50. but in the right hand column here is if you consider the, i think this is 7 here what is the age of which you considered those they would achieve 2.3%. in the lowest percentiles, they wouldn't achieve it at any stage. the highest 5% they would achieve at age 41. perhaps these individuals should receive before they are being offered it. so our conclude with the conclusions of the genetic

inquiry which also says for the volunteer code of practice for the direct-to-consumer testing which wld offer safeguards by encouraging them to be open and enabling consumers to make a informed decision. of the housef lords for the human getic commission and there's no particular con -- concept there. we would now recommend the principal. and finally with regard to education, the committee regarded as very important that health should go up the west side that would contain the information and other things that are listed here so that the public would have access to the information about the use of direct-to-consumer companies that are marketing them.

the advisory board has recommended the voluntary code of praice on the frame work of principals, quality assurance should follow international standard proposals win the principal for direct consumer testin and regulation should conclude consensus and accuracy of information, clear post market counseling and data professional handling. but i will stop there. >> thank you, tnk you timothy. thank you, andrea, and timmy both. we have some time now. we have time for questions. i am just intrigued, timothy, by your explaining to us about dna

of a little bit of a departure from the cure of what we're addressing. but i used to be a law professor with dick merrill here. we were fascinated by the absence of a tort right of privy in english law. but we had one in u.s. law. the explanation is british didn't invade each other's privacy. so they didn't need such a right. now what's interesting is we don't have a conpt of dna theft. we don't have a statute, but in your society, where one might not have expected, could you elaborate a bit on how it is that you have a statutory criminalization of the dna theft, is there a history? is there something there we should know?

and as i think about this as a lawyer, i think lawyers and companies are elsewhere are concerned about knowledgeable, informed consent had better triple and redouble their efforts where the failure of informed consent is to criminalize the subsequent analys of dna. there are all kinds of interesting questions that co out of this. >> i'm not a lawyer. and i don't know the history of it exactly. but i know that the popular press was very keen on how a helping for several years and have been interested in new technologies can be used and abused. one ofhe popular items in the press was whether high-profile individuals could have their paternity tested without them knowing it. that wou be of great interest to some of the popular press. i think that was one the stimuli. but apart from that, it was a

recognize the new technologyad considerable power to detect disease suck -- suck septemberality and when you can do those tests, i think that led the human genetics consider to be adviceed. >>rrelevant taken by your analysis for the risk for heart disease as well as breast cancer. i was aware from last year, i would to put, i mean this is really an interesting both clinical and public health issue with regard to health care services and screening and use of, you know, cholesterol lowering drugs. two questions, one do you think

the evidence we have so far managed that kind of targeted action both for breast cance screeng as well as cholesterol lowering targets on the basis of 20 or 25 snips is that we have for heart disease or not. second question i have relates to a family history. because family history is the risk factor by itself. it rises to more of -- it takes 20 snips to get the heart disease where as bamil history, you know, does more than that. and there's a significant fraction of the population that has that. last week there was an nih state of the science conference of the use of family history as a risk assessment tool for the common disease prevention and health promotion. i was one of the speakers. the panel concluded there wasn't enough evidence to evaluate the

utility or even a simple tool like family history. i'm curious to see what you think about the context of the family history vis vis-a-vis those two questions. >> i think the first thing that i would say is it is very fresh. i think most of the geticist that are involved believe the scientific evidence of the snips has been replicated now to show that the snips do have a -- usually a small impact on risking susceptiblability. now that is completely different than saying there is -- conclude ed that that -- difference tha

the consumers that to have the direct consumer test showed that it's possible that some individuals will recognize that they have a high risk for individual diseas. now i would say that i take peter donly here, he will be shown to be clinical utility and the health services will want to introduce them. and i don't think we're at that point now. i do believe that the comny that offer direct-to-consumer testinhave a lot to offer. they are the people that are going to be offering the test and hav the most access to data for those tests then they have probably going to be the ones who assume late the data to show their clinical utility. of large studies to show whether these new are current predicted. my belief is that some of them

are. my belief is at if you accumulate the snips that are available now federally coming in some of those will be shown to be clinically relevant. whher it is. 1% of the population for a particular disease or one or two or 5% it doesn't mean that we should rule it out as an eventual public@ @ @ @ @ @ @ @ b the and if we didn't include the

steps. >> i wanted to thank both of the speakers. but i have a question, and andrea, i'm going to direct this at you. you concluded with this bewildering slide that horrified everybody i guess about all of the actors involved in overseeing the various aspects of laboratory testing. but the two points in particular. with the fda it isy understanding and i hope he will correct me if i am wrong. the fda does not oversee the performance of tests. it only oversees the commercial marketing of materials or kits or whatever, right? >> well, the fta has a number of different tests -- >> can you put that closer?

>> there is a narrow number of sts and called the in vitro diagnostics analysis that has gone through a review by the fda but the review is before marketing the test. the fda has no oversight othe continuous evaluation on the performae of the tt, quality of tests and so forth. the clear regulation that takes over that. >> and what do theactually know about the proficiency in any lab, now i am just directing this that anybody particular, any loud about the proficiency with which genetic machi bed tests are performed? i mean, what do they do to assess the qualitx of the performance of the tests? >> welcome a laboratories which are certified are required by

law to perform efficiency testing. proficiency testing is required by law for only 82 and there is no genetic testing that is part of the two, 82. the second component of that is we are required to do alternative assessment and the alternative assessmencould be done by using proficiency testing material from hhs approved like the college of pathology that has genetic testing on their panel. and if there is no commercially available approved testing survey panels we can purchase then we have to do oer alternative assets through some exchange with a laboratory which is clear, certified or through the previously tested laboratory

ecimens tested previously and so forth so that is the perfornce of the testing. in addition all testing personnel have to be evaluated on a yearly basis to determine the are competent and they can produce qualitative results. we have to give them notes for all the testing they do. >> so can i follow up with a question? you had i think 29 gaps in the final slide. did you have specific recommendations for how to address those gaps? >> yes. >> and did you, in the end, propose regulatory oversight for dtc as another genetic testing? >> there we specific concerns r dtc. there is a difference between health -- clinical test of a human specimen that is done for

diagnosis, clinical assessment or prediction follows under the clear regulations in any laboratory even doing research sting where there is a clinical change should be done in a clear laboratory. so there is need for more enforcement of the regulation to make sure laboratories are performing clinical testing and that definition are clear, certified and follow the regulation. secondly, there is a number of laboratories that claim to be doing testing lifestyles or health-related testing. some of them are consumer testing. they are escorting some of these regulations accreditations. there are issues of proficien testing, help these companies are doing that. in thethere are issues -- there is current regulation on advertising through i can't

remember the agency -- >> ftc. sometc. so we make sure the truth in lending and misleading information. so there is current regulation we need to make sure they enforce so we recommend those are actually enforced. with regar to the director consumer testing we have in the process of developing a report where we pull the information from the reports over the years and you have a copy of the draft report. at this point we don't have final recommendations but you have a copy of that you cal use. the other concern the committee has is on the education of the clinicians and health care provideps to not only understand what the testing does but how they are going to react. >> so those are some of the major concerns that can be had. >> okay. going to take questions from the floor also in addition to

persons around the table. i wanted to note first though we will be able to make the powerpoint availle from presentationby no later than the midweek let's say perhaps sooner and we would also make available the two or three documents by the end of the month, or maybe it is the end of the month, from the u.k. simply because those might otherwise unavailable to you. yes? >> i am from the fda. i just want tcomment and free of for a really nice presentation and i think she went into depth trying to show how complicated regulation and oversight in this area is. i just wanted to add a few things. first i want treiterate what was already said and what is on the agenda, dr. courpney harper

from oibd will give presentation on past and prese tomorrow morning during the breakfast. and also, about the performance of the test i want to addo what andrea said that fda does look at the performance of the test either in the pre-market or the post market arena. the problem is, or the current oversight ase fda although it does claim jurisdictn over all tests but there are developed tests or kits the fda has applied enforcement, discretion for lab develop tests so far, and courtney will elaborate somewhere on this. i have a question for andrea as well. i am wondering if the secretary and fisa freakin' mehdi is

thinking about particularly in the state of california senate bill 482, which has been co-sponsored b23 and some other companies to recast direct consum companies has somehow exempt so i think the informal laboring of the statute is the post by a statute and they wouldn't be responsible for the analytic validity of the data but for the mathematical algorithms they are using and so in a way this kind of shifting categorizing these entities has somehow dtinct from the guidelines. >> this goes back to some of the comments made this morning are the sexually practice of medicine or not. we are going to have these companies that are occurring to putting reports out providing risk assessment that even though you do risk calculation you provide information, clinical

decisis will be made. the committee is very concerned about some of these comments particularly these but we will take into consideration. this goes back to issues brought this morning. they are trying to say they are not practiced in medicine but they are providing critical informion where some action will be taken. >> david? >> i would just le to follow on that. at pathway jebel mix we do not support senate bill h.r. 42. we think there might be a couple of good things placed here or there in the bill but in general we don't think the separation of the analytical and post analytical analysis should be accomplished and this should still be maintained and not develop a new body to regulate something that we don't really

many people may not understand. and we think it is our responsibility in the dtc area to help train clia with these tests are, the analytical process, how it works and engag overall regulatory process. >> one other point to dr. aitman's point about a common framework and protection. i think that that could be actually applied to the united states as well if youook across the board the different states have all kind of different regulations and we are doing our best. the goal is to eventually have all of the inappropriate -- meet everybody's standards and have licenser across all states so the path we would definitely

join in getting a common framework. >> i don't think -- i didn't mean to give the impression this was exclusive from framework to the u.k.. and in fact the u.k. would very much welcome comments and participation by a other jurisdictions. i think the initial idea was the code of practice would apply to the u.k. and other eopean states as well and they realized couldn't happen partly because the dna theft that is a lobby that is on the statute and the k. and there was a degree of protection that might not be present in other jurisdictions and so rather than trying to produce a code of practice which could be signed up to voluntarily by the dtc companies, framework of

principle should be universally applicable and over the three month period it may be too short of time to develop those to a way that is globally applicable and any comments from the core ovisions or the legislature or academic institutions will be welcomed and the website will be up and running i hope from tomorrow. >> anyone? >> yes. >> i don't know if there are any consumers in the audience but all i am a commission, and just speaking to having seen some of these reports and how patient is perceived these organizations that do the direct consumer testing they have no idea they are now regulated. they think it is a laboratory result just as if i would give them the printout from the labs i just did. they don't even know how the regular clinical care

laboratories are standard honest, regulated and so forth so a test is a test as far as they are concerned and it is a blank slate about wther there is regulation or not so i think in addition to all of the pubc and clinical education that needs to go on for professionals as well as patients, i think the reliability of phil levity, accuracy and interpretation of every test in medicine or the direct consumer arena needs to be addressed and discuss publicly and i think that is people will believe what they get from the health food store because someone has made a claim from one for they are looking for and many people in the public are no one in the same. >> i guess i kind of rustic ma to professor ganz's comment.

first of all the industry is thriving and will contue to thrive, which is fine. i do think they are engaging in a practice that is getting very close to a clinical laboratory and i think they're ought to be a uniform sxstem of standards that apply to the commercial sector and health care sectors of the people who receive information have the same kind of confidence or whatever word you want to use in the results and i think that isne of t issues i hav been trying to get my head and around in understanding exactly what fda does and doesn't do and what clia does and doesn't do in that regard. fo the company's to work

together to get unorm standards which i thi dr. bac, mentioned might be happening i think is okay but i don't think that is the solution because theistandards are not to be different from the standards of any clinical laboratory offering comparable services. because i don't think consumers can tell the difference in general and i don't see any reason why they would think there is a difference based on the promotions that go on by the companies so i'm not being negative about this but i am trying to think of a way out of the dilemma suggest the industry stves ande move forward there is a level of quality asrance that all of these entities performing these tests

and deliring the results to people must meet and that would be a good goal and how to do but i don't know. >> when you are driving that es beyond what the data are -- how far will the standards go? is it to the quality of the test to ask ron or does it go all the way through to regulations or standas for announcing the results, dplaying the results presenting them to customers, clients. >> i don't know. i think those are very legitimate questions and i don't pretend to have the answers to them. >> your focus was on the -- >> i actually agree with you it is the testing and then wh you do with the information.

>> i think what david is expressing is a certain level of anxiety in terms of the potential sort of i guess this use of information that could come out in the context of people o their own as well as the impact on the health care delivery system. i think one of the things the workshop we just had last year which didn't have much time to go over the rommendations, it takes all of these things into account and puts them in the context of the inadequate oversight that we have covered. i think as a consumer, as a provider, we need assurance the full gamut of analytic stolidity, clinical ki velvety and ethical issues are taken

care of. it's not sufficient to say this is a test that can, you know, has a good analytic of solidity. even that alone takes half of the oversht chart to cover that between clia and fda. if we are confused as a prime example or human example there are issu and analytic performance that have to be addressed but on the clinical side of the clinical validity and that is why i was asking dr. aitman for these markers on heart disease etc., we are generay in a state of confusion about what these numbers mean. based on the slides he showed and i showed i don't think providers know what to do with this information and it is insufficient to say we need to educate the providers because they can be educated but we need

to go collect data that shows the levity and utility and then display this in a prominent way to the providers and consumers so they can make the right decisions of the amount of oversight tt is needed to assure the process is what we are talking about whether it is using the existing regulations it doesn't mter but as a ciety in the health care system we need that information. i think one of the recommendations made is this mandate of the genetic test registry which you don't talk about, andrea, but i think it is one of thse things where test developers would put their best guess with the information means. the other thing independent panels like e. gap or in the u.k. can take a hard look at the eviden and say okay on average more harm our benefit than harm this not only to the individual tested but to the system.

i think we are dealing with a diuptive technology that may or may not affect everything we do it may lead to a truly revolutionizing the way we do medicine but also it could break the health care system. it could add additional unwanted cost and think about ald of these various estimates for various diseases and how many follow-up tests could be done to rule out these kinds of increased risks and whether or not we end up giving people more cholesterol lowering drugs because people have cancer screenings at an earlier age or prostate surgery at an earlier age. these things have to be somehow considered as an outcome of these things and right now if i was sending a bio marker of 1 it's not going to do it.

forget about genetics. genetics has a mistake about it but think about bio markers in general supposed to be providing tools for risk assessment. we are all there yet. the eve of the literature as you heard th of us present we may be there next year. i did the clinical the levity will devolve more quickly. for clinical utility there has to be tiles at some poi to evaluate whether or not and that additional information to the system whetherou do more good than harm and those things will take years. i am not sure i follow the prediction within five years or ten -- i don't know what numbers you gave but i think it is going to take more time to study the impact of this information on clinical and health-related outcomes and just to put it out for the consumers androviders to figure out what to with it is a major burden no matter how

much you educate the providers and consumers, this stuff is hard the numbers are changing on a day-to-day basis and i think we need enough oversight to ensure that the consumers and providers are getting the right informatn at any given point in time which would be different tomorrowr after. how do you put it all together is a challenge. >> so, you made a lot of points there and i don't know i can reond to them all but the first i would respnd to is the analytical solidity. you make the anecdotal case whetr a particular song came from a human or someone else. it is absolutely the case all labs make errors even a and ia, and there have to be quality assurance schemes in place which there are inhe u.k. and as i understood the u.s. has them as well. and in t u.k. epigenetic mabus mixing bowl diagnoses are well in place. i would put the analytical

solidity to one side becausit is much easier to deal with. whether the tests are accurately reported and the labs are registered with rightful authorities is the right thing to do. the other thing,he race is whether these steps are facility at all. whether they arelinical utility and ibm afraid the evidence at the moment isn't really there but i think in terms of toynbee's and coronary disease the arguments are less clear becau with diabetes we have been telling people they should have a good diet and exercise. and this is not going to particularly help, and i agree it could even stop people from doing it if they are at low risk and that as harm. but thease for me at least as much clearer for cancer. if you knew not one point threefold, for individuals that may be 1.3 told the risk maybe two or threefold which i think

it's much more clinically relevant. if there is alinical intervention which with some cancers there would be and that could be donner earlier by earlier screening then is it something we want to deny people and it becomes question in the u.k. for example should they be in the -- nhs or private health. i think in the usa it is a practical question whether you will get reimbursement and the present i would guess these statistics and evidence is not to get reimbursement and this will stay in the direct consumer commercialarket so i think the house of lords committee recommended and you referred to light is the national excellence the moment the appraised drugs not particularly popular with the pharmaceutical industry because oftentimes they say there sufficient evidence or is jot sufficient evidence at

but the jeneane beck proposed there should be a new program which would appraise the clinical effectiveness and clinical utility of these white association studies. and also peter donnelly cautiously said these would come into the team practice and he's talked about the nhs my guess is that for some diseases it will be shown that theodels that include the snips will be more efficacious and there will be a puic health case for introducing these models for screening will be for ten years. i would like to predict exactly when. >> we are going to move on at this point, and before we create genetic accountability office from the government accountability office there ill be pley of time to discuss these issues as the remaining

afternoon and morning program continues. okay? >> thank you very much for inviting me today. this will be different in other discussions today. i certainly don't have the medical and scientific background you all have that my staff would laught that and say that is an understatement. but we did an investigation in 2006ased on the room. it seems very relevant to the discussion and ishou enlighten some of the talking here so i'm going to give you a little background of my unit of spial investigations at gao and talk about the investigation

we did in 2006 and give you a little bit of the objectives methodology and results and i certainly participate in questions and discuss nce as long as you would like me to. a little bit of the background. my unit is special investigations. mostly antifraud work and special investigations and a little bit of security vulnerability assessments. we do some of the mother road apple pie looking at fiscal challenges facing the nation which is an understatement if you will at this point it has been the worst talking about that alone. ethics, stuart should come inteal control and national security issues. relevant to the discussion today we hav the authority and oftentimes to do undercover testing which in leighton's people what is actually going on out there and there will be relevanto what we are going to ta abmut your nutrigenetic testing where they were going to

recommend certain lifestyles based on your genetic profile. and so that is the scope owhat we did, the nutrigenetic is a ve broad set of tests out there. so we limited to those types of tests, which i assume are still out there today. we did this work for the senate special committee on aging, of really to validate the legitimacy of claims that were being made by these companies. we did on to a statistical samples we could not pject work results, certainly all of companies doing this on the internet possibly nobody could identify all of the companies out there. it is probably a moving target on a daily basis, sort of weekly or monthly basis. we selected for web sites doing these nutrigenetic tests, and all claimed to look at a limited number of genes, and spifically for you, i don't remember which ftc but it was between nine and 14 tests and they would create a lifestyle sed upon the genetic profile.

the allstate to the product woulall test for predisposition or provide diagnoses effect with diseases and the aptitude foretting the types of diseases. so we got 14 of these from these sites so we would have a variety of rests and i see these prices have changed over time the prices were between 89 and almost $400 per kit. the methodology. what we did is created fictitious consumers come or bogus and officials. we were going to send the information and on. we actually had real people who provided the dna andhe way they did it was a cheeks wal you're familiar with, it is almost like the q-tip. i can rember, 30 seconds to a minute and each time we did to samples. we used an nine month old femal and authority-year-old male and to let you know with the female es it was myaughter at the time.

i don't know if we would break the law today by doing that t that is what we did. we did the questionnaire providing the dna samples each company had a specific questionnaire you figured out so we felt these questionnaires with different individuals of different age sexes, different types of dietary practices, smokers, nonsmokers etc. and w turned the xin and consulted with experts because we didn't have the in-house expertise to evaluate these results. >> this shows the profiles of people. as you can see it is a wide range of ages from the 20's to the 70's, male, female. when you dulces specifics where some of the people smoke, some are overweight, some are under way and some drink excessive amounts of caffeine. so we put a variety of profiles and again this is 14 cents. 12 of these were with my daughter and the other two is --

ecial agent. this is what we got and it's interesting. i mentioned the websites claimed and what they predicted were these various types of increase risk if you will to the various typeof conditions, some very serious. i heard discussion here, diabetes is one of them, osteoporosis, a cancer. reduced ability to clear toxins, high blood pressure, heart disease and brain aging which i believe i am getting at this point. this is some of t specifics from the aual results and again there's a lot of detl behind bad but a coupl of things and you can all read through them about issues related to the ability to speenineteen cholesterol. and then age related conditions

so there was discussion of damaged dna. at the time we did this come and it sounds like probably still the experts we consulted with said the predictions didn't have a basis. there was not enough evidence for these predictions to have a scientific basis if you will. so there are two par. on proven that time but also ambiguous. the way they were written is you weret increased risk or may be at increased risk of various conditions strangeording if you will, something like the with a man predicting % chance of rain anybody in the world could have met the criteria you may be at increased risk of getting certain types of cancers of that is one of t results we received with respect to that. on the lifestyle peace and this is interesting. again, they claimed the life style recommendations you were

going to get were based on your unique dna so as we felt these out that is why we did a variety of actual people with various lifestyles and what we found was depending on what we said they said the opposite. we said we spoke they said don't smoke. if we said we drink excessive alcohol they said don't drink alcohol. if we eight fenty foods onhe other side if you don't smoke they would say keep up the good work. so it is just common nse lifestyle but they linked to the genetic testing and unique ftc genes. i don't know if you taught but the splement piece of this but several web sites for marketing supplements at the same time senior at increased risk. it's clever how this kind of linked together to say if you took supplements maybeou would be at a decrease risk of getting

these serious conditions and so they also said the pills were unique. the two people on had my daughter and each and were unrelated and got the exact same supplement, exactly the same so the day both the uniques supplement and we saw they were almost pretty much the same and in fact they were just glorified multi vitamins you could buy at rite aid but there's another one called cat's-claw at the time and it could repair damagedna by taking this pulintest upon the experts we spoke to there was at that time no such pilat could repair damaged dna. the next cost to the copious shows cost and that is why it was consumer fraud in my view. we had nutritious look at this and they were the same ingredients in the vitamins that right eight versus what we got in t supplements and to see the various items.

the only difference was there was more for the supplements on the left because of iran and some other things. some nutritionists saw that as too much ofran. i don't know the difference myself. but look at the cost, 10 cents a day versus $3.28 a day for multivitamins. there was another set of vitamins i mentioned the cat's-claw and that was like 1800 in here for the product so there are free is products and this is one example so that is the investigation and i am going to just say the purpose was to give congress in sight was going on and this directed marketing over the internet although we did see some of these heads and grocery stores and pharmacies. at that time iurham with the marketing is today. we certainly didn't intend to cast doubt on the medical evidence out there in the

promise to the, what helped and for your discussion today. thank you. >> excuse me, lee will speak now from the center for biomedical ethics. >> can you hear me? first i would like to thank the organizers for inviting me. it's obviously a timely topic. i should such a week this talk by reiterating i am an anthropologistnd my work is built ouof understanding how we emerging getic technologies and information that produces is taken up by the population.

and how it can impact predominance social ideas about difference and about our ideas about biology and soal identity. so, just to start i think it would be imptant to think about what all i have labeled here as shorthand traditional testing to see how we have shifted in the last several years. and these are based on some kind of basic how we think of genetics. the first is a traditional approach that genetic tests justified for at risk individuals for actionable conditions with available options so the idea is genetic tests should only be ordered by the laws or for those who have shown through medical history, family history a reason for taking a genetic test and they should be done only four conditions that are actionable in the sense you can actually do something about them. another kind of basic approach to the genetic testing has been

oversight by trained health ca professional. the idea that these tests should only be ordered by physicians or another type of train health care professional and there should be a requirement for the pre-and post test genetic counseling tt we should have high standards for quality assurancvalidity and reliability and that there should be mechanisms for insuring confidentiality and pulled on the idea that genetic information a special. i put this up there now to say that we have departed from this. i'm t to show how we have shted somewhat in the ways in which we think about direct consumer genomics in particular. the first is there are a lot of messages out there in terms of some of the information produced by genomic companies that individuals have a right to information without being at risk so the idea you have to prove to need a genetic test is

included by some of the companies in some of their messages that there is a diminished role in the health care proder in the broad category of genetic exper so necessarily need a health care provider to have a genetic test and that genetic expertise can come from different sources namely companies can provide much of the information on genetic information to the public. a proliferation of genetics for non-actionable treats and conditions, really this category of action ability is under attention now about which tests we should be allowing the public to have access to in terms of diseases and traits but medical genetic testing is only a part of the picture so the idea we have been focusing mainly on medical genetic tests but there is this other broad category of tests we might not want to

distinguish from in terms of a bright lin so i know the term recreational genetics has been banned aut. my own opinion iperhaps the dichotomy does a disservice thinking about the measures we should be putting in place in anticipation how these tests might broaden in the future. jeneane beck research is katulis forublic activism. we are going to talk a little bit more about that in the afternoon but to think about companies as being a site for genetic research and katulis for public interest in that research and in corporate guardians of peonal genetic information. so who owns who and takes care of o's personal information increasingly companies are taking up that role. what remains the same ice rink in what we see as the shifting landscape is this idea genetic information is indeed special.

what i want to do in the short time i have is think about some of the social issues emerging fromhe shifting landscape and to have us think about or anticipate the regulatory challenges and i picked four different topics. i could have picked mor but these are four areas i think deserve some scrutiny in terms of how we are approaching regulations and guidelines. first social networking and in particular privacy protection for those who have chosen to share their information online. the second is company sponsored research, consumer, how the consumer has often been recast as a human subct. testing in finding common language and describing genetic ancestrynd finally behaviol testing and genetic traits. some of you will recognize this from the web site of

speenineteen. they have been sharing architecture online. this is a compared jeanne tool available for 23 and me customers and with is if you are a member of the community you can share or at least compared i should say your genetic results with another individual who is part of ka 23me and you can see these individuals, greg and lily and how they may be similar according to the various traits and disease. in addition this particular company allows individuals to create your own family or group of friends and which you can compare and share your genetic information in terms of increasing or decreasing similarity. and again, another tool that is available now at least by one

company in the social networking, the social networking through the genome. another set of tools available are these kind of virtual communities that are given space on the web site to convene and talk to each oth through blogs about aifferent genetic information that might be of interest to them. this is from the 23 and me website where they talk about a circle of friends. here it is the pregnancy counity trying to congregate dividuals who might e most interested in certain issues dealing with pregnancy and genetics. w,e have gone into more detail about social nworking and its possible use through the direct consumer genomics and we talk about this in a recent article in the american journal

of bioetcsnd we focus on this concept tt has been brought up by anthropologists and thinking about how we are starting to use much more kind of genetic information ological information and creating cultural and social identities and here dr. crowley and i talk aut direct-to-consumer companies merging as new regimes where personal genetic information constitutes human identity get builds on the existing networks of social relationships. social netrking around personal genetic information has potential to create biosocial group that serve to overcome the major cultural split and is important to think about how companies may surf for bringing together individuals who have similar genetic profiles and start collecting in groups that may not have existed prior on the web sites.

so as eckert quick summary we have an expanding infrastructure, carvel infrastructure for networking not only of the sites of the various companies but in terms of collaboration with different social networking platforms like facebook and myspace.com. we may be behoved to think about or anticipate how the travel information may be a medium for connections but also importan site for scrutiny in terms of prections and privacy. now this is not to say that direct consumer genomics is the first industrial area that has tried to bring together individuals, patients on line and this is from the website patient is like me a this is an online company that tries to bring together patients have been diagnosed with various conditions to tal about their

experice to share ideasround therapeutics as a way of creating virtual communities around disease and what they've done in terms of their approach to privacy is interesting and emblematic of what we might see very soon with these other companiebut it is called open this philosophy and the idea is the internet, and this is taken from a patient website, the internet can democratize patient data and accelerate research like never before. furthermore we believdata belongs to you, the patient, to share with other paties, caregivers, physicia, researcher pharmaceutical and medical device companies. an example of the type of transparencyhat we may be seeing in terms of social networking sharing of information online. now we all know the genetic

information on the discrimination act was passed a little over a year ago and it does provide important legislation in the prohibition discrimination by employers. however there is questions how this relates to online sharing of data and whether or not the same protection will be extended to infmation tt has been blamed from publicly available siteas well as the inadvertent you see in the bottom taking of genetic information. one of the questions i think is yet to be resolved is whether or not this type of online sharing is protected and whether we need additional protection for those that do decide to share their information on line. the second area i wanted to bring up and perha this is a

good segue into the afternoon on research but the expanding use of companies and thinking about personal genomic research again this is from 23 and me, a leg of their company in some ofheir community members in t various research efforts and the justification for this is the scaling up. the idea companies can somehow take the place or supplement what we see donner with traditional academic research and speeding along some genetic research and here they state 23 and week is more efficient way of doing research.

so, the idea here is that companies may be taking the role of scaling up and that through collaboration, again from 23andwe would be empowered. again