hi. here is a new episode of tv hemocentro today i'll interview a professorof school of medicine of ribeirã£o preto, the geneticist victor ferraz. he is the head ofcancer genetic counseling, a sector of the general hospitalin ribeirã£o preto. - dr. victor, how are you doing?- i'm fine, marcos. first, to talk about genetic counseling,we have to understand what cancer is. cancer, marcos, is an alteration of the cells genetic material which causes the cell within a tissueto divide in an abnormal way
so the abnormal cell invadesthe normal tissue and occasionally leaves that place,what we call metastasis and goes to other places in the bodywhere the cell should not be and continues its growth. this might produce substances, or even as an effect of growthcausing problems in tissues that might cause diseaseand sometimes lead to death. i repeat, we that are not experts,always hear malignant and benign cancer. can a benign cancer changeinto a malignant one?
sometimes yes. but many times you may have a benignor even a malign cancer and it doesn't mean thatit wonâ´t be harmful to you, it just means that it is not so aggressive. but in that tissue where it is,if it is close to an important structure, its growth might cause some problems. some injuries we call benign,in the evolution might become malignant and be more aggressive, with cells being released from itto other parts of the body,
causing problems in several tissues. the general hospital has a sector,a department in which dr. victor is the coordinator,the head, which is the cancer genetic counseling that gathers families of the regionto follow people that had cancer to check if it is possible to identifyon these families, disease carriers,people that might develop this disease. i would like you to explain howthe cancer genetic counseling works. most importantly first is to definewhat genetic counseling is.
genetic counseling here as we consider is a procedure in healththat comprises several professionals: a geneticist who is a physician,a nurse, and a biologist inside a lab. a group of people involvedin the process of communication related to the riskof having a genetic problem. you might have the problem or thepossibility of having this genetic problem. then, involving things such as diagnosis,management, knowing what your risk is,the personal risk of developing the problem, the risk of having childrenwith the same problem
and manage this family, not onlythe initial patient to all these issues. the cancer genetic counselingis exactly this process done to what we callcancer predisposition syndromes, or the possibility of that cancerhaving a greater chance to happen in your family because you have inheriteda predisposition. the process is the same. it is a communication process that alsoinvolves the diagnosis of the problem, involves knowing what your riskfor the problem is, and the risk of your family to developthis problem.
what you can do to changethis evolution like "can i prevent this cancer?", "do i have to prevent future pregnancies?", "should i or should i not perform these testsin other people?", and adjust all the family membersto this information. i've been told 200 families,is this right? around this. these 200 families mean that 200 peoplehad cancer to contact them. not necessarily.
we conducted two years ago a surveywith some members of these families and we realized the mostof our initial clients entered this program because of someonewho had cancer and received treatment in the hospitalor in another one but were referred becausethere was a suspicion of cancer predisposition syndrome. i mean unfortunatelybecause another important condition are people who do not have cancerin their immediate family, that do not have personal cancer,
but have a strong history of cancerin their extended family, relatives that had several typesof cancer, a father or a motherwho had an early cancer. this person is also at risk,but she/he doesn't have cancer. the access to this kind of patientis more complicated. that's why i say unfortunately, because not everybody has cancerthat comes here, some people come only due to thefamily history. in this case 200 families, i would imagineabout 5 people per family.
a thousand people have been followedby the genetic counseling? no. it should be like this, but it isn't. there is a great difficulty in attractingpeople of the family for a follow-up. let me work with a concrete example here. my mother had breast cancer. fortunately she is very welland it happened years ago. do i have a predispositionto breast cancer? it does exist such as for everyone. in men it is less frequent but it exists.
so let's imagine my mother has beena patient of the general hospital. has it contacted her to take partin the genetic counseling or i know about the genetic counselingand look for its services? there are two possibilities. your mother might have been referred. let's imagine she hasor has had breast cancer and belonged to what we call at riskfor an inherited syndrome, a possibility, for instance,is developing cancer under 45 years old. she developed in her 30's.
so if she had in her 30's, she would have an indication to take partin the cancer genetic counseling. but people rarely know about it, probably you have never looked fora genetic counseling, neither has she, and the oncologist didn't request. but this patient should be investigatedabout the possibility of familial cancer, because there's a greater chancein those who have early cancer, so she might be referred or request this. usually in the general hospitalthere is knowledge on this area,
and when the breast doctor detectsearly cancer, he/she refers the patientto the genetic counseling. and you could also have the accessto the service if you had a history in your family. but currently the path in the system is the person goes to a health center,talks to a physician about the problem, in this level of care or in a basicor intermediate or secondary to take part in the genetic counseling or the doctor realizes thatdue to this history
you are at risk. then you come to the genetic counselingat the general hospital. we are going for a break and when we come backi will continue talking to dr. victor. he is the head of thedepartment or sector which one do you prefer? depends. i belong to the geneticsdepartment of the medical school, but in the medical care the sector ismedical genetics of the g. h. of r. p., to which the counseling is linked.
i'll come back to talk to dr. victor ferraz of the sector of genetic counselingof the general hospital, cancer genetic counseling, which is a process that the populationshould know more about, and know why it existsto look for this institution. break. i'll come back in a few minutes. i'm talking to dr. victor ferraz,a geneticist, professor in the school of medicineof ribeirã£o preto and head of the sector of cancer geneticcounseling of the g. h. of r. p.
in the first part we talked aboutthe work of counseling, and to take part in this counseling, 200 families are followedby these professionals. a person looks for the counseling or this professional looks forsomeone with cancer to provide assistance. then i ask you, what is family? is it father and mother,or father, mother, uncle, aunt, cousins in order to really know whether theymight have a predisposition?
marcos, the concept of family for thosethat work with medical genetics is wide. it can be extended to what you considerthat the mutation is present. in predisposition syndromes, you have successive generationswith cancer, since there are diseasesthat only siblings have cancer. the chance of a previous or a succeedinggeneration developing the disease is small. we call them recessive. but most of the predisposition syndromesare succeeding generations with cancer. as the fact of having this mutationthat gives the predisposition
doesn't mean that cancer will be developed, only that there is an increased riskfor cancer. this history sometimesis not present in a family. we and most of the professionalsof our area consider doing the investigationof the family history of at least three generationsthrough the family history. the patient tells you and you tryto find people who have cancer or injuries of one of thepredisposition syndromes. we cannot bring everybodyin the system to perform the tests.
that's a pity! let's come back to a questionof the previous part. the person looks for counselingto take part in this follow-up. how does it work? i've seen in a work you have sent methat there is a wide questionnaire that the person should answer. is it just answering it,and performing some tests? what does the person do when he/she getsin the group of the cancer genetic counseling? good question. the process of counselingof the general hospital
is done as a process of a normal visit,with some things a little different. the patient comes;he/she is referred for a first visit to know whether he/she deservesto be assisted, and if this worthiness is becausethe indication is correct to take part in the service. actually, before the patient seesa nursing team that clarifies the reason he/she is there,to check if the person knows, because sometimes the physicianhas made a referral and didn't explain, most of the time is what happens.
then she/he goes for a physical checkupto survey the history, the family history. we try to search objective dataabout cancers, since it is very difficult to getobjective data of cancer in some parts, breast cancer everybody knows, but abdominal cancer,you don't know in which organ it is. this information is very important for us. after the visits you performa physical examination and we request the necessary testsfor the diagnosis. if we consider the person has the possibilityof developing a cancer
because he/she hasa predisposition syndrome, there are follow-up protocols, independent on the molecular diagnosis. every person at risk,we consider that should do. you create a strategy of early preventionand diagnosis for that person, requesting tests that might changea little because of this. - but these tests are...- they are usual. - does the system pay…- the system pays for it. these ones yes. for instance,if the person has predisposition
for breast and ovarian cancer, she performs a transvaginal ultrasound,mammogram. the system pays for those. it is possible to do this interventionat the beginning. when you have another tool,which is the molecular biology test, you provide the diagnosis of the mutationwhich causes this predisposition. so in this example,200 families are assisted. certainly more than 500 people,i suppose, in this group of 200. maybe in the whole historyof the service.
were molecular biology tests performed? for some diseases. and what is identified in this test? actually, the clinical hypothesis you doafter this initial evaluation will indicate that the person might havea predisposition syndrome to breast cancer. so what would be the most frequentgene associated? let's talk here about the genesbsa1 and bsa2. we have this available, i mean, there are research projectsdeveloped by other professor
of the department that is dr. wilson and then we can provide thisin a research project that also involves assistance becausewe are developing this in the families. this test has been performed in 40,almost 50 families. is it paid by sus? it is not paid by sus. none of the molecular biology testsare paid by the unified health system. does the person have to pay for it? no, everything is done withresearch grants.
actually the patient doesn't haveto pay for anything. but once you have diagnosed the patient with predisposition to breast cancer,what do you do? if it is a family in this hypothesis, you follow the family with predispositionto breast and ovarian cancer, as you didn't havethe molecular tests yet, youâ´ve considered many people at riskand performed some preventive tests. then you performedthe molecular biology test for these genes and detected it in the family,
in general, in a person with cancerwe do first this test. we detect a genetic mutationdescribed as causing the problem i. e., it is an informative result. i can provide this testfor the whole family. and the person who presentsthis mutation is supposed to make an adjustment in itsconduct regarding the prevention of some more radical things, i won't take both handsbecause now i'm sure, but more than this, there are many peoplein the family who don't have the mutation,
you can interrupt this follow-up. this decreases the costs, both personaland financial for the system. an important thing is that there is a rate of uncertaintyin the test, since you don't find the alterationevery time and if you don't find the alteration,you don't know exactly, you cannot discard the possibilityof another gene and sometimes you find alterations that are not clearly linkedto the causes of the disease.
so the person that is going totake this test needs to know, that's why the genetic counselingis so important otherwise the person thinks she willdo the test and if it's positive, she has the problemand will develop cancer, and if it is negative, she doesn't haveanything and this is not true. so it is so important clarifying the kindof result this test might provide. i'm talking to dr. victor ferraz, professor of school of medicineof ribeirã£o preto and head of the sector of geneticcounseling of the general hospital.
we'll have a break now and we will be back for the thirdand last part of this interview. i'm talking to dr. victor ferraz, geneticistin the school of medicine of r. p., a genetics professor of the schoolof medicine of ribeirã£o preto and head of the sector of geneticcounseling of the g. h. of r. p. i asked you in the beginningof the third part, dr. victor, what is the percentage of the totalamount of cancer in brazil or in the world, if it was possible to comparepeople in brazil or in the world who develop hereditary cancer?
there is an interval that we call themagic number for each kind of cancer. we might have a variation that we consider5 to 10% of cancers as hereditary. so, breast cancer 5% to 10%,colorectal cancer 5% to 10%. some cancers we knowthat are not the same, if it is this kind of cancer the chanceof being hereditary is greater or the opposite, this kind of cancer has a low probabilityof being hereditary, but usually the magic number is 5 to 10%. if 5% to 10%, so 90% to 95% of cancersare developed
by external factorsor by the genetics of the person? yes, or by the genetics of the person. but you don't have a singledeterminant factor, like we find in predisposition syndrome, that actually you have a mutation in a certain gene that increasesthe risk of developing cancer whereas in other cancerswith history of the family are cancers linked toa genetic predisposition that facilitates some alterationsin the cell.
can external factors act in the developmentof hereditary cancer? this is a very interesting question because actually in cancerpredisposition syndromes you inherit the predispositionto the cancer, not the cancer. the cancer will appear becausea cell of a part of your body will have an alteration, but the predisposition only facilitatesthis to happen. so the prevention that you have to doinvolves the prevention of external factors: tobacco, all the potentiallycarcinogenic agents
should be avoided as for others. but you have a greater tendencyto develop, your care regarding these factorsone must be vigilant and the surveillance must alsobe scrupulous. interracial people in brazil are largely considered by professionals; does it facilitate or hinder the workof cancer genetic counseling? actually, in the literature,this magic number of 5% to 10% is a number of the international literature. we know little,
but we suppose that there is nogreat difference among the regions, but we have found for some, for example, there is a syndromewhich is linked to an important gene named tp53, it is a syndrome with a different name,it is li-fraumeni syndrome which causes several cancersin the family, some in particular,but you may have several kinds of cancer. we already know that in brazilthere is a mutation which is infrequent worldwideand here is very frequent.
so these works can only be producedhere in brazil. several kinds of cancer, it is a cancer predisposition syndrome, but the profile of this diseaseworldwide is a little different than the profileof people who have this mutation more frequently in brazil. these particularities may happen and we have to know betterhow it behaves in brazil, that's why we have been researching this
to verify whether the mutation profileis the same, if there's something we callfounder effect that means that one of the mutationsis more frequent here and also give a particularity in the careto the health of these people. in the text presented for the creation ofcancer genetic counseling there is a topic that you have alreadyaddressed in the backstage and i would like to discuss herewhich is family planning. what is the importance of the counselingfor the family planning or is the planning importantfor the counseling?
in fact, geneticists, who work withmedical genetics, consider the reproductivedecision very important. it should be done with as muchinformation as possible about the risks, risks for diseasesand with their beliefs, and with their cultural andsocioeconomic status, which will determine how many childrenyou will have and whether you will have children. so in genetic counseling you always dealwith the possibility of having childrenwith this same problem.
in cancer, some of these cancersare adulthood cancers, sometimes it impacts less, but some are early cancers or syndromes that give early changessince childhood. in couples when one is a carrier, sometimes it is consideredin their reproductive decision. and this tool of molecular biologycan help in this choice because if the person knowsthat there is a test that the woman can do during pregnancyor before implanting the embryo,
in which it can allow a choice,in countries where it is allowed, it may give confidence to have a babyin a situation in which he would not because of having a childwith the same problem. do you think it is viable that the coupleslook for the cancer genetic counseling, and also know more about their genetics to make this reproductive decisionthat you are mentioning? i think so. i do think it is necessary to demystify the issue of genetics linked necessarilyto high-cost exams,
in which you will not find anywhereor that is a rare disease. so some things are not uncommon and even rare, sometimes what youneed for diagnosis is low complexity. we need the complex exams many times, but we can make the diagnosisand management with relatively simple things. so i think they shouldmake the decision, knowing all the possibilities in relation to reproductionand life in general.
when the geneticist victor ferrazlooks at the future in his work field which is cancer, what do you see?treatments? perspectives? i work with a specific cohort of cancer, i'm a geneticist and work withfamilial cancer. what we expect is the possibilityof all these tools, from the technical to the least expensive, might be used to help younot to develop cancer, or if you do, it might be detected early and the treatment might be effectivefor you.
it is possible that there is a specificitythat depends on your genetics and it is on this pointthat we want to reach. it is almost impossibleto extinguish cancer, but we can add more effectivenessto the treatment, comfort and safety for familiesat risk in this case specifically that they will not have a different riskthan the normal population and if they do have,i might do an early detection, and provide the best treatmentfor that specific situation. for the cancer genetic counselingat the general hospital,
to finish this interview with dr. victor,there is a path to be crossed. first the person needs to goto the unified health system or to a private physicianwho will indicate the counseling. but the patient has to gonecessarily to the unified health system. the unified health system will referthis person to the genetic counseling. actually it refers the patient sincethe g. h. doesn't accept external patients, except if they are what we callregulate patients. they must go to the unified health systemand the system will schedule the visit in the sector of medical geneticswhich deals with several problems.
they will verify this problemis a familial cancer and if necessary they will referfor the clinic i've been coordinating. this is the regular way since the physicians who refera patient because there is a risk or the person who realizesin his family history people with cancer and has doubt "do i need to know whether it isa predisposition syndrome?" no, he doesn't. you do not need to have a doubt on this issue
and you deserve to be assistedin the system because of this. is there any phone number for information on the stagesto be followed or more information aboutwe have discussed here? the phone number of the medical geneticsis +551636022598 and people can get informationon the stages to be followed or clarify any doubt regardingthe service, how it is provided. people can phone this number. + 551636022598.i thank dr. victor ferraz,
professor of the school of medicineof ribeirã£o preto, head of the sector of cancer geneticcounseling of the general hospital. thank you,s dr. victor. in my opinionthe information was so valuable. thank you. it was an important opportunityto explain for the population something about easy comprehensionafter we heard this elucidation. thank you.see you in the next program. translation and subtitlingalessandra almeidafernanda udinal
Tidak ada komentar:
Posting Komentar