Genetic counselors and ethical dilemmas: Prof. Stavit Shalev

Genetic counselors and ethical dilemmas: Prof. Stavit Shalev

thank you very much and I think this talk will be a little different from the one you heard before the ones you had before you heard before because I want to give you a glimpse into the practical daily activities in the genetic clinics I think that I will echo some of the talks that they were given before and maybe we will wrap up whatever you heard I would like to emphasize a few things first of all Israel is a small country nine million people nine millions people according to the last report but still very very heterogeneous we have a lot of diverse population we have different ethnic ethnic groups here and also there are a lot of differences between I would say cultural background of the people and we have ultra Orthodox religious a population both Muslim and Jewish and we have to the other spectrum other side of the spectrum secular totally secular liberal population and we have a the whole between population in the spectrum and then a the Israeli genetic counselors and geneticists act according to to Israeli laws one is the one you heard before is the act of patient rights of course but there is a specific law act of a genetic data from the youth 2000 and we have to act according to this law – so in light of the fact that you all know about the uniqueness of the genetic data in our daily practice in the clinic one of our first mission is to inform the people in our room it might be one individual it might be a family about all these pieces of trivial data for you that many of the general population is unaware of what the genetic information why genetic information is so special why we deal with it in a specific context and one of the important information as you heard from me zivia is the ramifications implications for other family members and in this regard genetic data is totally different from other medical data that people might face a long way they use what is genetic counseling not only the patient's but only many of our colleague doctors are not properly familiar what what is what it is all about so I will read go on with you along the slide saying that it's a process of providing individuals and families with information on nature inheritance and implications of genetic disorders and now some very crucial points to help them to make informed medical and personal decisions and it might turn very very easy to some ears here or elsewhere just to tell you from my own experience it's sometimes very very hard because the people we meet the people we care for come from all kinds of backgrounds educational and other backgrounds it's not easy to deal with genetic data and nowadays many of them will not think about other implications ramifications including ethical and moral others and if we will not draw their attention to specific potential hazards they will not think about it understanding the research the scientific data behind the information the test results that we will deliver it might be very very complex might be very and not easy task at all and again would say sometimes to my colleague when I discuss things I find it's very very challenging let alone to the general population which for most is ignorant when it comes to genetics what I would like you to do is what I do whenever I talk to students and tell them that in particular in genetics and or genetic counselors and asked them that unlike in the general aspects of what we teach them and expect them to be professionals when I speak about ethical aspects of a genetic data I want them to be non-professional I want them to think about the people they care the people they love and then there come out with a general decision general conclusion general views over the a the ethical aspects that should dictate our work in the in the clinic because only if you think about people you love like your parents like your children brothers and sisters everybody has somebody to care for only in that situation you can resk the complexity of the situation that we face again on a daily basis so let me just share with you some slides discussing all kinds of examples that tomorrow when I get back to my office and I have to deal with my stuff this for sure some of these aspects will come up and I have to deal with so unlike the many populations in the Western world of course in Israel we do a lot of perinatal mmm practice a genetic tests and counseling and a lack maybe excluding the author also Doc's a population most of the population including what we call here traditional muscle team and Eligius people will seek will want genetic intervention genetic tests and other active steps along and around pregnancy and along the pregnancy and we here try to follow the current ethical principles that guide the practice of genetic counseling in the Western world like a our colleagues and that means that the genetic counseling should be non directive so it more complex than that of course we do say what we think we do speak about odds we do speak about risks and what are the consequences of ours but still we never say like it might be a code from the previous talk do that do that we totally respect a patient's autonomy and please don't think lightly about this point because in Israel we have many societies that autonomy is not one of the top most valued principle they most of the people most of the people in these communities do not feel autonomous for themselves they will consult with a rabbi with a caddy with the old people in the family I don't know but they are not autonomous and they find it hard to struggle the challenges that we put all that on the table so there is no genetic counselor in Israel that will not hear at least once a day doctor or mrs. so-and-so what would you do in my condition what would be your if it is if I were you what would you do of course we have to make sure that individual human rights over way any society interests like everywhere else everywhere else and I can tell you here as an Israeli that it it it didn't happen once it didn't have happened twice that I had to talk to decision make in the health system in Israel and tell them that their idea to make people sign of a paper saying that they will do a prenatal test only if they give their word that if the fetus is a fact that they will terminate the pregnancy that I think that such a paper is not is not acceptable and it's something that we should go along these lines it didn't happen once it didn't happen twice that means that people and are not stupid and they are not bad people but somehow if you put together money and health system and you're not very well aware of the ethical issues that the people in this room I found very you know even trivial something that you have to have in mind always so the sad situation is not this is not a situation and many people do not have this view don't do not have the tools to look five six steps ahead about the suggestions of course we have to respect and honor genetic diversity of course we have to avoid designing personal features and behavioral characteristics and this put us sometimes in a very very charged situation because the general population at least in Israel is very active is very read a lot they are very people aware of genetic tests and what genetic tests can lead you to and they are very very interested in such information often and they're very surprised to hear that such tests on a daily basis are not available or at least deserve a second thought and of course we are not intend to intervene with a human genetic pool but saying those words and speaking about all the things that you heard this morning and I will ask you you know matically what would you do if you face a couples that would like to deal with prenatal diagnosis in terms of prevention because this is what we can do nowadays for a deaf baby so in Israel just to share it with you in in large extent this is something that is considered acceptable unlike in many many kanuma communities in the states that regard this issue totally different and what about a FM f FM f it's a autosomal recessive disorder very very common in Israel in many many ethnic groups this is a treatable disorder associated by spells by a recurrent events of fever and stomach and aches and you know pains in your stomach sometimes in your chest and as I said very very effective medications for this situation but it's a lifelong disease you have to take medications all all all your life and I have not encountered with the parents who asked for prenatal diagnosis but I know of colleagues of mine that did have to challenge this issue would you do prenatal diagnosis would you give hand to terminate a pregnancy of a child affected with FMF what about mild of course or cosmetic problems so let's speak about cleft lip so on one hand of course you can present it as an only cosmetic problem but from the parents foot point of view and the family point of view it's far away from only cosmetic problem it's something you see it's something that many paper people will find repulsive in a way it might affect the bonding between a baby and the mother and as a geneticist I can tell you that once we diagnose using ultrasound if I pay a fetus affected with cleft lip I know that these fetuses chances of having other genetic and medical problems is higher because it might be isolated but it might be thin a feature of a wide genetic syndrome associated with other problems such as intellectual disability and of course ultrasound cannot diagnose intellectual disability okay so there is the gray is not that gray anymore right is not that black and white anymore the gray is very great this morning how about fetal gender selection in Israel this is something that is very very important and central I would say in prenatal world so we just spoke about how social event it has become to have the ultrasound and nowadays as a which is actually a medical examination and we in the young generation when I tell them that a generation ago a generation and a half ago and people did not know what is the gender mothers did not know what gender the fetus will be only at the time that got to the delivery room and gave birth to the baby then they knew that they have a girl or a boy so today it sounds unheard of okay it sounds like wow you were primitive these days yeah we were and now making a genetic test to know whether the fetus or an individual is a male or female is the simplest test in the book so if they if you can do that you the doctors why don't you use it to help me design my family according to our wishes and let me share with you something my sister's in the room in Israel the more the more desirable gender is not ours if to speak a very in a very you know China India but this is Israel we regard the self as a very advanced liberal you know country so not in this regard and of course we are not there but very it will not be a far away from us that very simple laboratory test to to to know what would be the prospect height of a fetus IQ and other personal traits will be available and people for sure will ask it during pregnancy how about pre-symptomatic genetic conditions so you heard about a cancer we have many tests now that if we find an abnormally result we know that the individual is predisposed to having cancer so I would like to make here to end here another information that will make our complex a picture even more complex so for for the most of these tests like brca1 and 2 most of the most of you must have heard of the test will not tell you four hundred percent if you'll get cancer yes or no it will talk about your predisposition of having cancer so in this regard do we want to test for adult diseases cancer included but I gave you the example of Huntington's chorea this is a devastating disease appearing developing around the age of 40 years with a severe deterioration in the cognitive abilities and also all kinds knowledge acalypha stations including spontaneous very very hard to see movements and and it ends of course with premature deaths so we don't have any anything to prevent any any medication to treat this disorder to change the course but a person who is at age 30 let's say does he or she deserve to know that they are going to develop these disease in so and so it used to come and what can they do about it well they can they can prepare themselves they can make all kinds of insurances they can prepare the family and so forth and what else what about the next generation so the the mother would like to test the prospect fittest for hunting of horror but the spouse the father who is in his family they the diseases diagnosed he doesn't want to know it doesn't want to know about himself he doesn't want to be tested and if you test the fetus and you find the fetus to be affected that means that the father now knows what is a genetic condition should we test or not we do lots of a general screening test in this in the population in Israel we have many many programs everybody here who was pregnant in the last day years or so cannot not understand what I'm talking about we have started with phase acts which is very prevalent among Ashkenazi Jewish population but now we have a battery of thousands and thousands of different diseases that we can test because we have diagnosed them and found them to be relatively frequent in a specific populations so keeping personal autonomy in these projects is very very difficult because we speak about mass screening and in Israel we still request an informed consent but what will be the informed consent process in such a situation when everybody is being tested how come you don't want to be tested for tay-sachs it said it's a devastating disease how really the informed consent is informed and then let me take you one step to where I work in fula which is a northern part of Israel we test large my a population of minorities and in the minorities mainly in the northern part of the country in each town we used to call it village but most of them are really towns they were founded by a very small number of families and if you tell me a family name of an arabic person from the north part of the country i know what in what town he or she lives in because people use used to marry within families within other towns and of course they have their own diseases recessive diseases that are more frequent in a specific town and not in that town so telling doctors let alone the general population what diseases are diagnosed in a town called Excel and next to me in in a fula is like revealing personal data because there are certain families large families homeless that live in Excel and speaking about Excel or the name of the homeowner in terms of these diseases that are frequent there is practically the same and how about screening the whole population for diseases that are about to develop to show themselves early later in life we spoke about a cancer the genes brca1 or 2 our social with breast cancer and many of my colleagues think that if you take into account the prevalence of meat the genes in the population in particular – can is a Jewish population the preventive method measures that you can take nowadays in terms to to improve the outcome of the cancer with the early diagnosis and so forth they are confident that it is advisable to perform the whole population screening at a younger age for diagnosis those who are carrying mutations in these genes and of course testing children have their own specific issues that might be must be addressed it has been discussed in a previous talk quite extensively so I will not go over it and by just talk about pre gestational genetic diagnosis and a new technology that is wide widely practiced here in Israel for prenatal diagnosis so it's kind of a diagnosis prior to pregnancy in the lay people language so to speak what we do we do IVF we do in vitro fertilization we do a fertilization of an egg in the laboratory in the laboratory for a reproductive reproduction and then we have a very very small fetus in English we call it embryo in Hebrew we have only the word UBA so when I speak obba I don't mean a very little babies lying in a tube okay I speak embryo I speak a few cells of future to be a human being and if you take one cell out of this 8 or 16 cells embryo you can test everything you heard that from we can test we can do a whole exome sequencing nowadays from one cell what we do on a daily basis is testing something that we know of a disease that was diagnosed in the family and this is prior to pregnancy to avoid the need of prenatal Dagny termination of pregnancy now I'd get back to the simplest test in the laboratory genetic test I mean testing the gender should we allow PGD for sex selections and then of course other very complex issues of the era when we do a lot of high-throughput genetic test you heard about exome sequencing and whole genome sequencing so we do it on a daily basis and it's a matter of huge headache headache for us but also for the individuals in our counseling room that have to deal with medical information that they didn't think of they didn't intend even to hear about of course we discussed it with them prior to the test what is their view about those incidental findings but here we have our professional societies saying if you find something incidental which is actionable like many genes associated with cancer you are obliged to share it with your a can sleep and I can tell you again think about you think about people you you know and love and their ability and their emotional situation when they have to deal with that with such a situation and let me finish with a I would say how many I put here five five examples of you know challenging situations in genetic clinic just for you to think about it first of all to fill some warm feelings to us to me personally and and then to to think about the price we have to pay in our era when the technology is so advanced but and we want to translate it to daily medical practice but there are some things to think about and to implement in order to do it the right way if there is some thing called right way so we heard about the disclosing genetic test to other family members you have to remember that in Israel we have many many societies that knowing that a person namely a woman is a carrier of a genetic situation a genetic abnormality making her predisposed to some medical condition or worse predisposing her children to be affected with a medical situations that make her in some societies in Israel a very person of second degree and she might be severely discriminated when it comes to marriage when it comes to her chances to get married at all and if so who is the spouse that in those usually conservative societies will be matched with her and this is across religions here in Israel it's not rarely that we situate that we face a couple that do not agree what they have to do with the future pregnancy or the ongoing pregnancy think about something that is a autosomal dominant that will pass for a parent to a child a one person one a spouse is affected the other one is not so we had all the combinations you can think of that the affected individual said I don't want more I don't want children's like me I don't want to have children like me I want to prenatal diagnosis and termination of a children of my child that might have a condition like me and the other say the other was the other one will say now I love you I married you why should I terminate a child that will have the same condition as you now think about the other condition in which the affected individual will say I don't mind having if you were terminate my pregnancy me as a fetus I wouldn't be here at all right and the spouse would say no I don't want to cope with a child affected with it okay so yeah not always though so just to give you a hint or some to taste what it's like to sit in the genetic clinic nowadays and to use all the benefits that science for us in order to make our patients happier healthier and hopefully we do it to some extent thank you very much [Applause]

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