Colon Cancer Colorectal Cancer

>> good afternoon,or good morning, or good evening dependingon when and from where you're joining us. i'm dr. john iskander. it's my pleasure to welcome you to cdc public health grandrounds for april 2016: using genomics forcancer prevention. public health grand rounds hascontinuing education credits available for physicians,nurses, pharmacists,

veterinarians, healtheducators, and others. please see the publichealth grand rounds website for more details. grand rounds is availableon all your favorite web and social media sites. we're also live tweetingtoday; use #cdcgrandrounds. we have a featuredvideo segment on youtube and our website calledbeyond the data, which is posted shortly afterthe session.

this month's segmentfeatures my interview with dr. lisa richardson. we've also partnered withthe cdc public health library to feature scientific articlesrelevant to this session. the full listing isavailable at cdc.gov/library. the cancer family history guide,which was available in hard copy for those attending inperson, is a pocket tool for healthcare providers thathelps guide providers' decisions on when further evaluation

and genetic counselingis appropriate. please visit the michigangenetics resource center to learn more about the tool and to order yourown free of charge. here's a preview of upcominggrand rounds sessions. please join us live or onthe web at your convenience. in addition to today'soutstanding speaker, i'd like to acknowledge theimportant contributions of all of the individuals listed here.

thank you. and now we'll havean introduction from cdc's associate directorfor science, dr. harold jaffe. >> this will be ashort introduction. thanks, john. and thanks to the speakersparticipating in today's session on the important topicof using genomics for the prevention of cancer. i'm thinking that most cancersare really a combination

of risk factors relatedto genetics, the environment, and behavior. but some of them are associated with specific inheriteddisorders that greatly increasecancer risk. for example, we know that over1 million americans have either hereditary breast andovarian cancer syndrome, hboc, caused by mutations in the brca1and 2 genes or lynch syndrome, which is associated withearly colorectal cancer

and increased risk ofseveral others cancers. these symptoms increasethe cancer risk for affected individualsbetween five and forty times that of the restof the population. nonetheless, persons withthese syndromes can benefit from evidence-basedinterventions for early detection andprevention measures. for example, for peoplewith lynch syndrome, earlier and more frequent testing couldreduce colorectal cancer risk

by an estimated 60%,and interventions to identify women infected with brca mutations could reducetheir breast cancer risk by 85%. in addition, thediagnosis of one of these syndromes can benefitnot only the affected individual but also provide an opportunity to identify other at-riskfamily members who could benefit from risk reductioninterventions. public health, workingwith our clinical partners,

has the opportunity to makea big difference for persons with hereditary cancersand for their families. and with that goal in mind, this grand rounds willhighlight cdc's recent work in public health genomics andthe innovative approaches taken by state health departments topromote education, surveillance, and policy efforts to addressthese cancer syndromes. so please give ourspeakers a warm welcome. [ applause ]

>> thank you, dr. jaffe. i'd now like to introduceour first speaker, dr. lisa richardson. >> good afternoon, everyone. i'm lisa richardson, and i'man oncologist and the director of the division of cancerprevention and control. cancers of the femalebreast, ovary, and colon and rectal cancer are amongthe top ten most common cancers diagnosed in the united states.

colorectal cancer is thethird-most commonly diagnosed cancer among men and women. breast cancer is thesecond-leading cause of cancer death among women. all the less common, ovariancancer's highly deadly. and most cancersare caught late, when they are moredifficult to treat. colorectal cancer isthe third leading cause of cancer-related deathsamong men and women.

the risk factors vary fordifferent types of cancers as noted on this slide. in particular, inheritedgenetic mutations that increase cancer risk playa major role in about 5% to 10% of all cancers, and the mostcommon hereditary conditions include hereditary breastand ovarian cancer syndrome or hboc and lynch syndrome. hboc syndrome involves mutations in two breast cancersusceptibility genes --

brca1 and brca2. these tumor suppressor genes areassociated with increased risk of the cancers listed on thisslide with the highest risk for breast and ovarian cancer. about one in every 500 women in the us has a brcagenetic mutation. lynch syndrome mainlyinvolves mutation of dna mismatch repairgenes leading to tumors with microsatellite instability.

mutations in these mismatchrepair genes are associated with increased risk forcancers of the gastrointestinal and female reproductive tracts, with the highestrisks associated with colorectal cancer. here we see the number andproportion of cancers associated with hboc and lynch syndrome. while infrequent, the populations affectedby them are sizable.

individuals with thesehereditary cancer syndromes are also more likely to bediagnosed at younger ages, at later stages, experiencemore treatment-related late and long-term side effects,and have greater risk of developing second cancers,whether at the same time, at the same siteor a different one. each year hboc syndromeaccounts for up to 10% of all breast cancers orapproximately 22,000 cancers and 15% of all ovariancancers or approximately 3,000.

genetic mutations in dnamismatch repair genes associated with lynch syndromeaccount for up to 3% of all colorectal cancer orup to 4,000 cases each year. carriers of hereditary cancersyndromes face a significant cancer-related burden. in these two pictures theleft one depicts 100 women in the general population and the right one depicts100 women with hboc syndrome. among women in thegeneral population,

the risk for breast canceris about 12% by age 70. among women with hbocsyndrome, about 65% are expected to develop breastcancer by the same age. the risk for ovarian cancer in the general populationis about 1.3% by age 70. among women with hbocsyndrome, about 39% are expected to develop ovariancancer by the same age. in the carriers ofgenetic mutations leading to lynch syndrome, about 40% areaffected by colorectal cancer

by age 70 compared to 4%of the general population. certain family histories areassociated with increased risk for hboc syndrome,including breast and ovarian cancersdiagnosed at earlier ages. for hboc syndrome, family histories are alsoincluding a breast cancer diagnosis in a first-degreerelative, including breast cancer in men. approximately one

in 40 ashkenazi jewish women hasa brca gene mutation compared to one in 500 in thegeneral population. for lynch syndrome, includingcolorectal cancer diagnosed at earlier ages. family histories include one or more first-degreerelatives diagnosed with another lynchsyndrome-related cancer such as endometria, ovarian, and stomach cancer before theage of 50 or two or more first-

or second-degreerelatives diagnosed with another lynchsyndrome-related cancer. currently there are twogenomic testing recommendations for individuals with thesehereditary cancer syndromes. the first is from the uspreventative services task force and has a two-foldrecommendation. first, primary careproviders screen women who have family memberswith breast, ovarian, tubal, or peritoneal cancer toidentify a family history

that may be associatedwith brca1 or 2. if women have a family historyconsistent with hboc syndrome, they should be referredfor genetic counseling and, if indicated aftercounseling, then brca testing. the second is the evaluation ofgenomic applications in practice and prevention working group,which recommended that people with newly-diagnosedcolorectal cancer have access to genetic testingof their cancers to identify lynchsyndrome to prevent cancer

in their close relatives. interventions thatreduce risk for cancer or cancer-related deaths forindividuals who are carriers of hereditary brca mutations andlynch syndrome are available. for hboc syndrome, these includediscussions with the provider and patient about takingrisk reduction medicine such as tamoxifen or raloxifeneif a woman is at low risk for adverse medication effects. while discussionsabout mammography

in the general populationdon't begin until age 40, women with hboc syndrome maywish to talk to their provider about having mammographyat an earlier age or in combinationwith breast mri. currently there is no universalscreening test available for ovarian cancer. there are two prophylacticsurgeries that could be used to mitigate risk: a bilateralmastectomy or removal of both breasts can reducethe risk of breast cancer

by at least 95%; a bilateralsalpingo-oophorectomy or removal of the ovaries and fallopiantubes can reduce the risk of breast cancer rangingfrom 40% to 70% and the risk of ovarian cancerranging from 70% to 96%. when patients considerhaving these procedures, issues that may requirediscussion include possible physical and emotionalside effects and preserving fertilityby freezing embryos. individuals with lynchsyndrome should have discussions

with their providers about starting screeningcolonoscopy starting at age 25 or younger basedon family history. public health practitionersare working to translate and implement recommendationsfor genetic counseling and testing for hereditarycancer syndromes into practice. these programs workto address challenges and barriers to implementation. surveillance, epidemiology,

and public health researchhelp us track the burden of cancers associated withhereditary cancer syndromes. communication and partnershipefforts increase awareness and reach, and publichealth tools and interventions are developedto reach individual providers. we will describesome of cdc's work in these areas in more detail. in 2014, cdc launched the nobrca decision support tool, which helps women and theirproviders understand their risk

for having a brca1or brca2 mutation. the tool provides informationto women to guide discussions with providers aboutfamily risk. this resource includesa smartphone app and a web-based tool forpatients and medical providers to learn more aboutbrca gene mutations and assess individual riskfor breast and ovarian cancer. target audiences include youngwomen ages 18 to 44 at high risk for having a brca1 or 2 genemutation and their providers.

cdc launched the award-winningbring your brave digital media campaign in 2015. bring your brave providesinformation about breast cancer to women younger than 45by sharing information about hereditary breastand ovarian cancers. this resource increasesawareness about breast and ovarian cancer inwomen younger than 45. women tell theirpersonal stories about how their lives havebeen affected by breast cancer.

development of the socialmedia campaign was based on extensive research withtarget audiences and marketed through facebook, twitter,pinterest, and youtube. the cdc-funded public healthcancer genomics program provides leadership and builds capacityfor cancer genomics activities and state publichealth departments. cdc funds a five-yearcooperative agreement to implement education,surveillance, policy and systems changeactivities to translate

and implement nationalrecommendations for cancer genomics. funded programs are workingto achieve these goals by developing and fosteringpartnerships and collaborations with local, state, andnational organizations and health systems. you will hear more informationabout one of these programs from our next speaker. the ultimate objective ofthe genomics program is

to decrease the morbidityand mortality due to hereditary cancer syndromes. the program seeks to educate thepublic and providers, develop or expand surveillancesystems, and assess systems or policy barriersor facilitators for genetic counselingand testing or risk reduction services. we're going to hear more about how one program isaccomplishing these goals

from our next speaker,ms. deb duquette from the michigan departmentof health and human services. >> thank you. it is an honor tobe presenting today. i'm the genomics coordinatorfor the michigan department of health and human services and also a board-certifiedgenetic counselor. michigan is proud to becelebrating over 15 years of our state publichealth genomics program

with a primary focuson hereditary cancers. our state health departmentbecame one of the first in the nation to realize theimportance of cancer genetics to improve health outcomes andenhance the quality of life. this was independentlyrecognized by our cancer preventionand control section and their michigancancer consortium partners who identified theimportance of cancer genetics, especially for riskassessment and referral

for brca counseling and testing. additionally, as part of ahrsa-funded needs assessment, the genetics program,which had been focused on newborn screening,learned from our stakeholders that cancer genetics wasimportant to improve the health of the people of michigan andshould be included in our work, leading to our stategenetics plan being the first in the nation to include cancergenomics goals and objectives. our cancer genomics program hascritical internal partnerships

with our cancer preventionand control section, michigan cancer surveillanceprogram and vital records, medical services administration,and numerous external partners that have enabled usto achieve the goals and objectives identifiedin our state genetics plan, including increasingcancer genetic literacy by expanding publicand provider knowledge; assessing the public healthimpact of hereditary cancer; genetic services;enhancing communications

with cancer geneticservice providers and promoting partnerships;and most importantly, reducing morbidity and mortalityrelated to hereditary cancer by increasing utilization of appropriate cancerrisk assessment services, which is the ultimatelong-term goal of our cancer genomics program. we're also proud of the michigancomprehensive cancer control plan that was the firstin the united states

to have an entire goalfor cancer genomics. the michigan cancer consortiumhas over 100 organizations that have worked on this statecomprehensive cancer control plan to increasethe availability of cancer-related geneticinformation to the public and decrease barriers torisk-appropriate screening and treatment services. additionally, theseorganizations have worked on the ovarian cancergoal to improve access

to genetic counseling servicesfor women who are at high risk. a new comprehensive cancercontrol plan has just been released that includesseveral specific and measurable cancer geneticobjectives and strategies for the next five years. our cancer genomics activitieshave been significantly enhanced because of severalcooperative agreements with cdc. the first five-yearaward in 2003 sought to integrate genomics intochronic disease programs.

the next award was in2008 with the purpose of moving evidence-basedgenomic applications into health practice tomaximize health benefits and minimize harm. it was this cooperativeagreement that led to our successful approach of using the core public healthfunctions of assessment, policy, and assurance to promotecancer genomics best practices. we were especiallysuccessful in developing

and implementing surveillancefor lynch syndromes and brca1 and 2 mutations using newand existing data sources, such as our statecancer registry and the michigan behavioralrisk factor surveillance system. we also develop providereducation tools to increase use of appropriate screening,counseling, and testing; and identified modelhealth plan policies for appropriate brcacounseling and testing. in 2011 michigan wasawarded by cdc to enhance

and expand our policy,surveillance, and provider educationactivities related to brca counseling,testing, and management. this cooperative agreementrequired funded programs to conduct policy activitiesfor breast cancer genomics. we therefore structured ourprovider education and clinical and public healthsurveillance activities to utilize health planpolicies as the catalyst to maximize health benefits

of appropriate brca-relatedservices and minimize potential harms. we envisioned brcaclinical practices as four critical steps,starting with accurate recording of family and personalhistory of cancer; followed by appropriatecancer genetic risk evaluation and referral for brca counselingfor at-risk individuals; next followed by brcatesting for consented patients with accurate interpretationand discussion of results;

and finally, forindividuals found to have a deleteriousmutation, appropriate delivery of brca-related clinicalservices. since the inception of ourcancer genomics program, the michigan cancer surveillanceprogram has been instrumental for several activities,including monitoring the number of cancer diagnoses appropriatefor lynch syndrome screening and hereditary and breast andovarian cancer assessment; cases examined using ourstate cancer registry

and vital records data includemultiple primary cancers, breast cancers diagnosedat a young age, triple negative breast cancers,and males with breast cancer. over 15,000 cancersdiagnosed in a two-year period in michigan met this casecriteria to be appropriate for hereditary cancer screening. this information has been used to disseminate individualizedreports back to the reporting facility andprovider with information on how

and where to refer cases for clinical cancergenetic services. with the michigan cancersurveillance program we have also conducted qualityassurance chart audits to assess cancer familyhistory documentation, lynch syndrome screening, andbrca counseling and testing. these chart reviewshave identified areas for improvement, includingfamily history documentation, especially for age of onset andthe need for increased referrals

for brca and lynch syndromecounseling and screening. based on these findings, family history documentationhas been added as a mandatory reporting elementfor facilities in michigan. with cdc, the michigancancer surveillance program, and the university of michigan,we also conducted a study of 3,000 young breastcancer survivors and their at-risk femalerelatives to determine barriers and facilitators tobreast cancer screening

and cancer genetic services. we also providedwritten interventions to increase these services. this study demonstratedsignificant health disparities with the baselinesurvey finding only 18.3% of black young breast cancersurvivors receiving genetic counseling and testing,compared to 32.9% of other young breastcancer survivors. the most common self-reportedreason

for not seeking cancergenetic services was that no one had eversuggested these services. this was reported for 75% of black young breastcancer survivors and 63% in order to increase providerawareness and education about appropriate referrals forbrca counseling and testing, michigan partnered withcdc, other state grantees, and local partners todevelop an online cme course. participants learned brca bestpractices through an engaging

and interactive onlineapproach that includes a variety of clinical cases withdifferent decision options, risks, and outcomes. participants can receive2.0 cme's at no cost. this online course has hadover 4,400 sessions viewed with the majority ofparticipants reporting that the course willchange their practice we have also developedprovider tools to assist with risk assessmentand referral

for cancer genetic services andcancer screening management. one of our most popular tools isthe cancer family history guide, which has been sent to over20,000 providers at no cost. michigan has had significantannual increases in the number of individuals whoreceive brca counseling, were tested after counseling, and received brca-positiveresults at cancer genetic clinics with board-certifiedgenetic counselors.

this increase is relatedto several factors, including provider educationefforts and a significant growth in the number ofcancer genetic clinics with board-certifiedgenetic counselors -- many in previouslyundeserved areas -- and the availability of telephonic geneticcounseling services. however, there continues to be aneed for cancer genetic services for specific populations.

for instance, less than300 black adults per year in michigan are receiving cancergenetic counseling services with little increase seenbetween 2008 and 2013. for our new cooperativeagreement, populations in need of greater cancer geneticservices are our primary focus, including black adultswith a significant personal or family history of breastand/or ovarian cancer. another activity that hashelped to increase access to brca counseling and testingis our work to recognize

and promote best practicesfor health insurance plans. we develop metrics forbrca best practices based on evidence-basedrecommendations and reviewed each healthplan's written policies. once a health plan receivedthumbs up for all metrics, they were recognizedby our department. annually our program hasprovided each health plan with an individualized reportindicating areas of improvement if needed, data about the number

of their members receivingbrca counseling and testing by clinics with board-certifiedgenetic professionals, examples of best practicewritten health plan policies, and a directory of michigancancer genetic services. when this work began in2009, there were only four of 25 michigan healthplans that were recognized for their written policies. and now to date wehave recognized 16 of our health plansthat provide coverage

to over 8 millionpeople in michigan. for many of the health plans,annual growth in the number of their members receivingbrca counseling has been found. additionally, we have shownreduced insurance barriers to appropriate brca testing inour clinical surveillance data. cdc has used this as a model to investigate brcawritten health plan policies in other states. with cdc's support, we alsofounded the lynch syndrome

screening networkwhose mission is to promote lynchsyndrome screening and all newly-diagnosedpatients with colorectal cancer. if your institution isinterested in partnering for newly-diagnosedcolorectal cancers, please consider joiningthe network. this is a national organization with over 120 leadingcancer institutional members that have reported over 20,000newly-diagnosed colorectal

cancers screenedfor lynch syndrome with significant annualincreases since 2009. in summary, thereis an overall need to increase evidence-basedcancer genomic best practices for all populations and to address identifiedhealth disparities. state health departmentsare well poised to promote such practices and have theinfrastructure to do so. partnerships and dedicatedstaff can help tremendously

to advance cancergenomic activities that utilize the core publichealth functions of assessment, policy, and assurance. please contact me if you areinterested in learning more or obtaining anyof our educational, surveillance, orpolicy resources. thank you so much. and the next speakeris lindsay avner, who is the ceo of bright pink.

>> thank you so muchfor allowing me to join you here today. my name is lindsay avner. and my story startedback before i was born. i have a very, very, very,very strong family history of both breast andovarian cancer. my grandmother and great-grandmotherpassed away six days apart, both from breast cancerat the ages of 39 and 58.

when i was 12, my mom wasdiagnosed with breast cancer and ten months laterwith ovarian cancer. and i'm so thrilled to sharethat she's a 24-year breast, 23-year ovarian cancersurvivor today. and as you can imagine, i alwaysfelt as though this disease or these diseases would becoming for me at one point but it would be yearsand years from now. although i was surprised aftergraduating from the university of michigan when i foundout that i tested positive

for the brca1 genemutation in 2005. i was shocked, i was scared. i reached out to a wholebunch of cancer organizations and found i didn't reallyfit within that group and yet i wasn't likeeverybody else. oops, so sorry. i would go to thesescreening appointments and i would hold my breath, hoping that everything would beokay, walk out, breathe a sigh

of relief, but knowi had to turn around and do the screening once again. and through my entireexperience, i realized that i wasplaying a big game of defense and not offense. and so in 2006 i opted to have arisk-reducing double mastectomy. at the time i was the youngestpatient in the country ever to make this decision. and it was throughthis experience

that i realized the lackof resources out there for young women like myself -- women who are healthybut have the power to be proactive withtheir health. i was asking myselfthis question, which is: why do we have to wait until someone isdiagnosed to take action? and so in 2007 brightpink was born. bright pink is a nationalnonprofit organization focused

on the prevention and earlydetection of both breast and ovarian cancerin young women. we see a world in whichfewer people are dying from breast and ovarian cancer. we aim to reach themat a young age and inspire them to take action. everything we do is focused onempowering them with information and access to resources andtools, getting them to do things to be proactive with theirhealth -- to go to their doctor,

to examine theirfamily health history, to have this conversationwith women in their life that they love. and we do this by reachingthe 52 million women in the us between the ages of 18 and 45, as well as the healthcareproviders who care for them. we're reaching them withevidence-based breast and ovarian health contentin a whole variety of ways. i'll tell you aboutsome in just a moment.

but we're reaching them inparticular where they work, where they're connectingdigitally, where they're engagingwith their community. and the whole focus is inspiringthem to put awareness in action. we sit on the decades ofmassive awareness movements and yet we find that that samewoman who might show up and run a 5k has no ideathat her father's side of the family history mattersjust as much as her mother's. and we're aiming to that changethrough are education programs

that are focused on scale,reaching millions of women, and sustained behavior change. it's a two-prongedapproach to our work. one side of the organizationfocuses on empowering the women; the other side focuseson ensuring that we have proactiveproviders. and together this is alife-saving equation. and we have broad reach. we currently operatewithin 39 different states.

we have coverage of brightpink-trained ambassadors who go into their communities,into workplaces, into places of worship,and they're educating women and offering unmatched support. we couldn't do it alone withoutthese thousands of people who are joining us andbringing this mission to life. and so to touch just upon howwe're doing this specifically as it relates to young women,we have an incredible workshop that is about 20 minutes.

it's called brighten up. and what we do is we go intoplaces where young women are. we teach them about the rolethat family health history plays in determining their own risk, we walk through early detectionpractices, signs and symptoms, risk reduction, risk assessment. and ultimately, the end call to action is our digitalrisk assessment tool. but you can see with theeducational workshop last year

alone we had the opportunity toreach more than 35,000 women. this year we're on track todouble that, to reach more than 70,000 women withthis high-touch program. the digital complement to thisprogram is a 19-question quiz that we call assess your risk. it combines family healthhistory with lifestyle factors and gives a user a preliminarysense of do they fall within an averagerisk, increased risk, or high-risk category; what'sworking in their favor,

what's not, and whatthey can do as a result. and you can see we were soproud last year to have more than 120,000 women completethis risk assessment. and this year we're on track toclose to triple those results. for those women who find outthat they are at high risk who carry a mutation,we have a whole variety of support offerings. pinkpal is operated by apsychologist on our staff who pairs up a young womanperhaps considering genetic

testing with anotherwoman who's already -- of similar demographicswho's already gone through a similar situation. we have outreach groupsin 23 communities. these are gatheringsof high-risk women to share similarconcerns and experiences. and we also have a whole digitalpresence of people who prefer to sit from the comfort of theirhome and connect with others. and we're a reallyproud later this year

to be launching a newmicrosite that's focused on being a one-stop-shopfor all information related to genetic testing to reallydemystify this process and inspire women who should begetting testing to cross over, obviously responsibly throughvisiting a genetic counselor and ensuring thatthey are prepared to handle those results. we know that this is working. this is a report from one of ourambassadors, so one of the women

who goes out into the communityin dallas and educates. she said. "after this talk iwas approached by a young woman who shared her strikingfamily history of breast and ovarian cancer;she was relieved that there was genetictesting for her family." we also heard just acouple weeks ago from katie, who wrote to us onfacebook, and she said, "thank you for providingaccurate and evidence-basedinformation on cancer risk.

i knew that i carrythe brca2 mutation, but the information youprovided helped me decide to undergo a prophylacticdouble mastectomy six weeks ago. i am now a success story." and that's what it's all about. on the other sideof the organization, as i mentioned before, wefocus on reaching providers -- ob/gyn's, internists, family medicine practitioners,nurses as well.

and the whole program wasdeveloped based on this insight and this constant conversationwe're hearing from members of our community who aresaying "you educated me, i went to my provider and i actually knew a littlebit more than they did." and what we realized isthere was this tremendous gap that existed in ensuringthat providers knew that risk is not binary, it'snot you're either at risk or you're not; it'sa spectrum and how

to properly classify womenbased on risk and manage that risk as a result. so we've trained close to 50medical providers nationwide who we send to grandrounds settings and residency didactics. it's a 50-minutelecture accompanied with a case-basedlearning module. since 2015 we were so proud toeducate women 4,000 providers at more than 80 institutions.

and we all know theseare very busy people who are seeing alot of patients. so the exponential impactof this work is the power to reach more than 14 millionwomen in the years to come. what i think is soincredible about this, though, is that the providersare walking out, whether we're reaching themat prestigious institutions or community health settings,and they're telling us that this program ismaking a difference.

and you can see this yearwe're on track to reach more than 6,000 providers atmore than 100 institutions, more than 21 millionwomen seeing the benefit. and we're also working on adigital component to this. so the program evaluationshave been quite revealing. 89% of providers are citingan increased knowledge on how to correctly classifythe risk level for their young female patientsas a result of this program. you can see from thechairman of family medicine

of the cleveland clinic saying,"thanks for an interesting, practical grand roundsthis morning. already starting tochange the way i think about screening someof my patients." more data, 84% of ourproviders are indicating that they had an increasedknowledge of breast and ovarian cancerrisk reduction and early detection optionsfor young women as a result. and i love this quote from dr.redman who said, "you know,

this lecture really givesthe right perspective. it breaks it down. it's more than studying forthe boards; it's the heart of practice saying weknow that 99% of people who are attending theseworkshops also say that they would either agree or strongly agreeto this statement. i feel a sense of urgencyto initiate conversations about breast andovarian cancer risk

with my young female patientsas a result of this program." and that is thatsustained behavior change. we're also following up withthree- and six-month data to ensure that it'sreally sticking. so it's interesting becausei started this talk sharing with you a little bit aboutmy history, my background, the past and that inspired me. and yet what really movesme today is the possibility for the future.

the reason i do this work is because i have threeteenage children that are absolutely counting onme and they're counting on all of us to create theworld that we want. i met my husband, greg, six months after his latewife felicia had passed away from breast cancer. everyone said shewas an amazing woman. she was actually diagnosedwith breast cancer at 35

and only afterwards did she findout that she was brca-positive. i have two step-daughters anda stepson that may be carriers. and i have a visionfor the world i want for them to grow up in. and it's a world wheretheir provider is educated, it's a world wherethey feel supported to make healthy decisions,and it's a world where they are playingoffense and not defense. and i know that this world canbe possible because of the work

of bright pink, because ofthe work and dedication all of the work that each andevery one of you do as well. so with that, i wouldencourage all of you to visit brightpink.org toget involved in our programs, offering assessyourrisk.orgas an option. and i thank you so much. with that, i'd love tointroduce you to dr. khoury. >> good afternoon. you've heard what cdc and statepublic health programs are doing

in using genomics in cancercontrol and prevention. cancer has been theleading application for public health genomics. but genomics truly appliesto all human diseases and affects all areasof public health. almost two decades ago, cdc realized the profoundopportunities and challenges for genomics in public healthand created the cdc office of public health genomics.

the office has beenworking with cdc programs, state public health, andother partners to effectively and responsibly translategenome discoveries into disease preventionand population health. we have three main strategies: identify evidence-basedgenomic applications; inform and communicate withproviders, policy makers, and the public; andintegrate these applications into clinical practice andpublic health programs.

a crucial function ofpublic health genomics is to identify health impact ina rapidly emerging landscape of science and technology,specifically identifying which genomic applicationsand family history that are supported bysynthesized evidence for their use; estimate thepotential population health's impact, which can be measuredin terms of lives saved, disease prevented, andhealthcare cost savings; and finally, promotingappropriate and equitable use.

this public health assessmentfunction is needed more than ever as we continue to seeamazing growth in the number of available genetic testsin the past two decades. as of march 30th this year, there are over 78,000genetic tests for more than 4,000 diseases available through clinicalresearch and practice. almost 700 labs and more than 1,000 clinics areoffering genetic testing

for many diseasesand conditions. what should be the appropriatepublic health response? to identify genomic tests andapplications that are ready to impact health now, cdchas developed a simple classification schemafor genomic tests based on rapidly changinglevels of evidence. tier one or green areready applications that can be implementedtoday in practice. and you've heard twoprominent examples today.

here are the three: breast and ovarian cancerand lynch syndrome. but there are also other thingslike newborn screening, which has been a prominentpublic health genetics program for more than 50 years. tier two or yelloware applications for which there isinsufficient evidence to support routineimplementation, but they can provide informationfor informed decision-making

on a case-by-case basis. in category includes,for example, many of the 200 pharmacogenomictests that are on the fda gene drug label. these tests are used for theprediction of patients' response to certain medications. tier three or red areapplications and tests that are not ready forroutine implementation because they either lackevidence or there is evidence

to recommend against their use. an example of tierthree are direct to consumer personalgenomic tests. summarized today there are more than 40 tier one testsclassified today; most of them are cancer-related. their intended uses varyfrom diagnosis, prognosis, risk prediction, treatment, risk assessment, andpharmacogenomics.

in fact, genomicapplications today in tier one could benefitmillions of people. other than newborn screening,which affects all births, the two conditionsdiscussed today are estimated to affect more than 1 millionpeople in the united states. and most of them do not knowthey have these conditions. this calls for an importantrole for public health in saving lives andpreventing disease. you heard about the onelow-tech genomic application

or two that's ready for usein public health today -- that's family health history. we know that family healthhistory is a risk factor for many diseases. use of family historyoffers opportunities for targeted screening andevidence-based interventions that can save livesand reduce the burden of many chronic disease inaddition to cancer, diabetes, and heart disease, for example.

public health approaches to use family historyare already in place. for over a decadecdc has been part of the surgeon general familyhealth history initiative, which has developed an onlinefree family health history tool available in four languagesto encourage all americans to collect familyhistory information, especially around holidayswhen families gather. thanksgiving dayhas been declared

by the surgeon general thenational family health history day since 2004. so where are we now withgenomics and public health and what does the future hold? the possibilities for genomics to improve public healthare growing rapidly. more than a decadeafter the completion of the human genome project,genome sequencing is cheaper and more reliable than ever.

whole genome sequencing hasemerged as a powerful tool in both clinicaland public health. human dna sequencingis increasingly used for the diagnosis of raredisease and tumor sequencing. pathogen dna sequencing hasbecome an essential public health tool. the recently launched cdcadvanced molecular detection initiative uses genomictechnologies, and bar informatics,and surveillance,

and outbreak controland detection. we've also seen increasedpublic awareness and use of genetic tests, such asthe increase in brca testing that followed angelinajolie's announcement about her own status andprophylactic surgeries. last but not least, we areseeing a rapid proliferation of direct to consumer genetictests by the private sectors. a million or more people havealready sought such services in a changing paradigm of howgenetic testing can be done.

supportives of direct toconsumer testing praise it for allowing consumerempowerment; others have expressed concern that such testingdoes not adhere to evidence-basedapplications and best practices, and certainly, the use of genetic counselingbefore testing. increasingly, a publichealth approach is needed to address challenges ingenomic implementation

across many diseases. you've heard abouteducation of the public and healthcare communityaddressing healthcare systems limitations, such ascollecting family health history and approaches to informaffected patients' relatives of their risks; promotingevidence-based policy and practice to support theappropriate use of genomic tests and reducing healthcarecosts; collecting, analyzing population-level dataon implementation and outcomes

and assuring the lab qualityof such testing; and last but not least, addressinghealth disparities to ensure benefits for all. the potential forwidening health disparities in the genomics era is real. this is just oneexample of a study that illustratesdisparities in brca testing by racial ethnic groups. this is a study of earlyonset breast cancer cases

in young women froma national sample of about 14 millioncommercially insured patients. you can see that black and hispanic women aresignificantly less likely to have brca testingcompared to white women. not only do these women missout on the benefits of testing in terms of theirown management, but their family members alsomiss out on the chance to find out if they're at risk.

these types of datashould be looked at across all genetic testand disease conditions, and reasons for disparitiesexplored and addressed. genomics is also increasinglyaddressed in national policy and legislation, includingthe affordable care act, which now covers someevidence-based genomic services, such as brca, in accordance with the us preventive servicestask force recommendation, as well as newborn screening.

the genetic informationnondiscrimination act or gina prohibitsdiscrimination and has coverage on employment based ongenetic information. the inclusion ofspecific cpt codes for many genetictests now allows us to track implementationand outcomes of genetic testingin the united states. and last but not least, hhs healthy people 2020objectives have added two new

genomic objectives:hereditary breast to summarize, you've seen thisslide before in the context of cancer genomics buttruly applies to all areas of genomic activitiesin public health across numerous diseaseprograms. this includes surveillance,epidemiology and research, communication and partnerships,and public health practice. finally, i'd like to end with a unique emergingopportunity for public health.

in 2015, president obamalaunched the us precision medicine initiative. this initiative promises anew era of targeted treatment and prevention acrossmany human diseases. the initiative hastwo components: development of new cancermolecularly-targeted therapies and a national cohort ofa million or more people which seeks to prospectivelystudy genetic and nongenetic factors in healthdisease and other outcomes

on a very large scale andalso to use this information in developing new therapiesand preventive interventions. how is this initiativerelevant to public health? the success of the precisionmedicine initiative requires a strong public health partnershipto help ensure inclusion and generalizabilityand to focus on prevention, notjust treatment. public health is also needed toensure an appropriate balance between long-termknowledge generation

and immediate healthgains within the cohort that are possible by implementing existingevidence-based genomic applications, such as the onesdiscussed today and others from the tier one cdc list. in the future we canlook forward to a new era of precision public health in which health interventionscan be targeted to population subgroups basedon genetics and other factors,

to maximize benefits ofprevention strategies, minimize harms, andreduce healthcare costs of the 21st century. thank you for your attention. >> okay. we have timefor a few questions. i want to thank allthe presenters. cathy? >> from ouronline audiences, would the panel pleaseaddress the perception that people may have thatif they don't have the genes

for a particularcancer, they are safe. that really needsto be accounted for. >> muin, do youwant to start with that? >> you've seen the slides,actually the slides have the risk of breast and ovarian cancer andcolorectal cancer among people with or without carriage ofthese types of mutations. and if you are negative orbrca1 or 2 or lynch syndrome, you still don't have abackground risk of breast, ovarian, and colorectal cancer.

that depends on other riskfactors, depends on your age, depends on other considerations. there may be other genes thathaven't been measured yet. >> dr. jaffe? >> i know that thedirect consumer marketing of these genetic tests israted i guess as tier three, but presumably peopleare getting these tests; are they turning up to geneticcounselors holding their test results and saying "am igoing to get breast cancer?"

>> deb, you want to take that? >> yes, that's correct. so you are exactly correct,that that is happening in the genetics clinics, as well as in the primary careprovider clinics as well, that people are bringingthose test results, very confused aboutwhat they mean. and then also the providersneed to try to figure out what's going on with that.

interestingly enoughin michigan, we're one of the very fewstates in the united states that we have a law that'sbeen in place since 2000 that requires writteninformed consent to be obtained by a provider beforeany presymptomatic or predictive genetic test. but it would only apply tothings that happen in michigan. so it's certainly whenwe've looked at data from our behavioral riskfactor surveys and compared it

to other states, michigan, we do seem to have wayless awareness of that. and it may be somewhat related to that law comparedto other states. so we're perhaps not seeing itas much in michigan compared to other states, but weare definitely seeing it. >> just to add to what debjust said, a recent study of 1,000 customers who had theseservices, and within six months about a third of themtook to their providers.

and many of them emerged back from the provider interactiondissatisfied or unhappy of that interaction becausethe providers didn't know what to do with the information. so it's a confusingmarket out there. there are other reasonswhy people do dtc testing, like ancestry and,you know, recreation. i mean, they have fun, theylike to do other things. but for health-related purposes,we call them tier three.

>> so lindsay, did youwant to say anything as someone who's been tested? >> yeah, i think thisis a hard gamble. as somebody who, you know, istalking to women day in and day out about this information,and trying to get them over this really criticalhurdle, there's so many people that should be gettingtested that aren't. so in some ways creating greateraccess is really exciting in a lot of ways, but italso can be scary, right?

we need to make sure thatwe're doing this responsibly, that when peopleget the results, that there is a hugeuptake in terms of doing somethingwith those results. we very much believe -- wetalk about this all the time at bright pink -- that it'snot just about knowledge, it's not just about awareness; it's about what do youdo as a result of that? and so i think having areally thoughtful partner

in your provider,which is why, you know, the program bright pink isgoing out and delivering in communities nationwide isso critical because we need to make sure that theseproviders are totally equipped to have this conversationto support the action that drives that as a result. >> we'll take a questionfrom the online audience. >> so from our grandrounds email box, dr. richardson advocates geneticcounseling for individuals

who may have increasedrisk for cancer. according to a recent report onnational public radio, however, the current number of geneticcounselors is inadequate to meet this need. could dr. richardson or otherspeakers comment on one, the adequacy of the number ofgenetic counselors compared to the number of people whoseek or need genetic counseling, and two, national effortsto increase the number of genetic counselors?

>> so we all heard thatstory on npr yesterday. and we thought it was quitetimely for today's presentation. this is a shortage ofgenetics counselors who are board certified,and deb can speak to that. i think some of the thingsthey're doing in michigan that they're doing in otherplaces is telephonic counseling. telehealth is nowbecoming bigger and bigger so you can reachaudiences or people in need who don't have counselorswhere they are.

i am not aware --and deb may know more about what the training --how training is being ramped up to have more counselorstrained. >> so yes, you are correct. the american board of geneticcounselors, the national society of genetic counselors havedefinitely been trying to think of ways to increase thenumber of genetic counselors. one of the issues is that thegenetic counselors are moving from clinical practiceinto industry.

and so to keep thosegenetic counselors in clinical practice new thingsare happening like increases in salary, which isa very good idea, but also programsare really trying to increase their capacity. for instance, i'm anorthwestern university graduate of their geneticcounseling program. this year they had 13 graduates,but next year they're taking 20. >> the only otherthing i will add is

that i think it's justreally important to make sure that we're thinking about whereespecially young women are in offering the information, how they're used toreceiving content. and i think part of our efforts to create a digitalone-stop-shop so to say that really demystifiesthis process, i think. because we do know sometimeswhen people are referred to genetic counselors,

that middle step can actuallybe a hindrance in itself. so i think this is a reallytricky evolving situation. we all need to be watchingit but also be focused on the end goal, which isensuring that the 90% of people in this country who carry brcamutation have access to find out this information and therefore dosomething as a result. >> we have time for onemore question in the room. rich?

>> thanks and really good and useful presentationsby all four of you. appreciate that. so i'd like to talk aboutone group, ashkenazi jews. on a personal note, i wasborn and raised jewish. my sister and motherhad breast cancer -- both brca-negative which makeslife more difficult in figuring out what their risk factors are, as someone else pointedout here.

since ashkenazi jews aredisproportionately affected or more likely to have brcagenes, what is cdc doing, what are states likely to do,what do we support the states to do, and what avenuesare you looking at? and i'll just name afew and then go away. so one is that jewish womentypically are very tightly bound to their parentseven beyond marriage. and the mother commonly is ina sisterhood at her temple. so that's one thing.

another situation isthere are colleges that are relativelyhigh percentage jewish women population. i'm told emory is, like, one-third total menand women jewish. so that's another target. and since we're talkingabout the proper targeting and communication, i wonder if we've started tomake that attempt.

so thank you, howeveryou take it. >> thanks, rich. so to answer your question,we have been working with several jewish groups, onein particular. so we have identifiedthat as a population to which we reachout to specifically. i can't -- don't have timeto go into all the details, but i'll be happy totalk with you later.

but yeah, we have recognizedthat as a specific need. so i think that'sall the questions that we can take now-- i'm sorry, one more? okay. >> again, from ourgrand rounds email box. this one's a little broad. what are your recommendedstrategies for public health organizationsto provide education, screening, and referrals forbrca1 and 2 testing?

>> so deb, that'sright up your alley, i'll let you take it or start. >> i'm a huge advocateof epidemiology and data and starting there toreally try and figure out where the needs arein your community and then to target your educationefforts based on that. otherwise i think it's going to become way too broadand not so focused. but one easy target is ifyour state does have a large

ashkenazi jewish population, that would be a veryeasy place to start. so that would be my numberone focus for people. but it does seem whenwe look at our data -- and i would encouragepeople to look at this -- is really look at the ovariancancer cases because i think that is a very, veryimportant group that definitely needsthese services and that all ovarian cancerpatients would greatly benefit

for this. in fact, you're going to findsomething, either lynch syndrome or brca or anotherhereditary cancer syndrome in that population isgoing to be much greater than these other populations. >> so i'll end with the fact that you're watching thistelecast right now is the beginning of learningabout what your options are and becoming educatedabout your options.

all the things that we've talkedabout here today are critical. and the main thing is -- i thinkit was rich may have said it when he was speaking -- youknow, family history even without a gene is reallywhat this is all about. so understand yourfamily history. understand what your optionsare for counseling and testing. and then, you know, empoweryourself, as lindsay said, to move forward and figure outwhat to do about your risk. >> thank you all very much.

can we have another roundfor our outstanding speakers? >> so i actually used the wheelto log in my own family history. and thankfully, my provideris actually screening me appropriately. so i'm very happy to haveconfirmation of that. this is a great tool. and, again, please join us innext month for another addition of public health grand rounds.