 I will now be recording. Welcome to our webinar this afternoon. There are two speakers and two content items for your information. The first is on implications of newborn screening for nurses and nursing faculty, and the presenters will be Dr. Jane DeLuca and Dr. Alex Kemper. That will be from 3.30 to 4. And feel free to submit questions by typing them in, and we will ask them at the end of their presentation any questions that you may submit. From 4.30 to 4.30, we will have a second presentation by Dr. Martha Turner on ethical, legal, and social issues in the translation of genomics into healthcare. So we're very happy to have our speakers here today. Dr. Jane DeLuca is an assistant professor in the School of Nursing at Clemson University, South Carolina. She completed her AAS Degree in Kingsborough Community College, a BS in Nursing from Hunter College, a Master's Degree in Nursing from Columbia University, and her Pediatric Nurse Practitioner Certificate from New York University. She completed her PhD studies in 2010 at University of Rochester, New York, and Dr. DeLuca's research interests include newborn screening, of which you'll be talking about today, provider parent communication and genetic education on the Internet. The co-author for the newborn screening paper provided in this special issue by the Journal of Nursing Scholarship on newborn screening was Dr. Alex Kemper, who is a general pediatrician and health services researcher. After his pediatric residency training at Duke University, Dr. Kemper completed combined fellowship programs in health services research, medical informatics, and preventive medicine at the University of North Carolina. He also has a Master's Degree in both Epidemiology and Biomedical Engineering. Dr. Kemper is now Associate Professor of Pediatrics at Duke University and his research focuses on the evaluation of screening in primary care and in public health settings. He currently leads the Condition Review Work Group of the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children and is also the Associate Editor of Pediatrics. And we're very proud and pleased to have both of these presenters today. I will change the presenter to Dr. Jane DeLuca, and as soon as I change the audio, you'll be able to speak, Jane. Just give me one moment. Hello. Hi, everyone, and thank you for joining us and welcome to our webinar. We're going to talk about implications of newborn screening for nurses in practice, nursing faculty, and nurse researchers. We have a number of objectives for the webinar. We'll have an overview of newborn screening activities at state and national levels and ways in which disorders are considered for inclusion in newborn screening panels. We'll consider some of the controversies of newborn screening, which include false positive findings, identification of carriers through newborn screening, and issues of biobanking and the use of residual dried blood spots for quality assurance and research. We'll talk about the roles of nurses in newborn screening with suggestions for nursing education and research. And finally, we'll go on to some new developments. The broadcast is now starting. All attendees are in listen-only mode. A brief history of newborn screening. In the early 1930s, a Norwegian physician and biochemist, Ashwarm Fohling, identified an unusual metabolic compound, phenylpyruvic acid, in the urine of two children with cognitive regressions. He identified an inborn error of metabolism and bisolitist, phenylpyruvic, which is later termed phenylketourea or PKU. In the following decades, a diet treatment low in phenylalanine for PKU was developed by Dr. Horst Bickel of Germany, which could prevent the laser associated with PKU. In the 1950s, Dr. Robert Guthrie Buffalo developed a method, a bacterial inhibition assay, for accurately measuring phenylalanine levels from small amount of blood spotted on filter paper cards. Jane, can you show your slides, please? I'm sorry, I'm not seeing those. I have it up on my screen. Kathy, can you see her slides? No, I was trying to figure out how to send you a message to tell the cast. Shall we end the show and then try to put them up again? Let me go ahead and pull them up. I'm so sorry. Okay, which slide are you on, Jane? I am on three. Okay, go ahead. I will need to turn it over to me, though. One second. Okay, go ahead. Okay, so we are actually on four, I think. We've moved ahead to four. And can we go back one? It's not moving yet. Is that where you want, Jane? Yeah, so I'm assuming that we sort of heard everything up to this point, so I'll just continue on. In the 1950s, Dr. Robert Guthrie Buffalo developed a method, the bacterial inhibition assay for accurately measuring phenylalanine levels from small amounts of blood spotted on filter paper cards. This method was applied to a screening program in the U.S. by Dr. Robert McCready of Massachusetts. By way of definition, newborn screening is a public health program for the early identification of serious disorders in infants which are amenable to treatment. Newborn screening spread throughout the state to worldwide. And in the U.S. disorders such as thyroid deficiency, hemoglobinopathies, and other metabolic disorders were added to screening panels so that by the 1990s, anywhere from four to 11 disorders were screened for in different states in the U.S. In the 1990s, newer technologies were developed such as tandem mass spectrometry and these were applied to newborn screening in the next decade. In some instances, states include DNA testing for specific mutations and select conditions such as cystic fibrosis, a medium chain acyl-CoA, dehydrogenase deficiency, and others. I wanted to briefly describe the newborn screening process for webinar listeners. Ideally, parents receive education about the purposes and process of newborn screening in the prenatal period though this often occurs in the newborn nursery around the time of the heel stick. A few drops of blood are obtained via a heel stick from infants usually at around 24 to 48 hours of life and placed on a filter paper card which is dried and sent to a designated screening lab for analysis. Within 7 to 10 days, screening results are available. The vast majority of newborn screens have been normal. In some cases, a repeat sample may be required because the sample was inadequate or the results were slightly out of normal range. Critically abnormal screening results trigger an emergent referral to a pediatrician, a metabolic specialty center, or even an ER depending on the type and severity of the disorder or whether the infant is ill. Diagnostic outcomes for infants could be false positive where a child is well but there's no diagnostic follow-up needed. In some cases, a diagnosis is ascertained or results may be indeterminate which require additional follow-up and monitoring. Jean, do you want to move on? Inclusion of new disorders to state screening panels is under the jurisdiction of public health law for each individual state in the U.S. This has led to differences in the type of disorder screened for. Since the advent of expanded screening, there have been efforts to establish a recommended uniform panel of disorders for the entire U.S. The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children to provide guidance to the Secretary of Health and Human Services which is currently Dr. Kathleen Sebelius about newborn screening policy development and projects to enhance newborn screening services. Disorders can be nominated for consideration for the uniform panel. It's suggested that nominations come from multidisciplinary teams comprised of researchers, experts in the fields, professional organizations, and interested consumer groups. The committee then decides if there is sufficient evidence available to assign the disorder to a work group for review of the condition. The review is rigorous. It includes a literature review, prevalence of the disorder in the population, whether there is an appropriately accurate method for screening for the disorder, an estimation of the number of potential cases that could be detected through screening, false positive and false negative rates, potential risks and harms in screening, what diagnostic testing is available, treatments, costs of the processes, and other pertinent evidence would be available for the committee. Jean, you can move on. Here's a list of the current disorder recommendations of the Secretary's Advisory Committee. It includes categories of metabolic disorders such as fatty acid oxidation disorders, hemoglobinopathies, endocrinopathies, and other conditions such as cystic fibrosis, severe combined immunodeficiency, and hearing loss. It's important to note that despite recommendations of the Secretary's Advisory Committee, states can choose different disorders to include on their panels or not. A current list of each state's disorders can be found at www.jeansruss. This is a website that's listed as a reference at the end of this presentation. We can move on. Balancing the benefits and harms in screening. Although there have been many gains from expanded screening and the implementation of new technologies, there are also difficulties. More disorders screened for mean more referrals of infants with potentially false positive results. Screening can identify secondary conditions, some of which are not very well characterized or have poor outcomes. Complex treatments may be warranted for treating some of these conditions or treatment regimes may not be well established. However, there are other potential benefits for parents and families not specifically associated with treatment. Early identification of a disorder permits parents to quit the agonizing diagnostic odyssey, which often accompanies the search for a diagnosis of a rare disorder. Knowing about a potential diagnosis allows for parents to prepare for a child's expected care needs and health outcomes. And in addition, parents can make informed reproductive choices from their knowledge of their children's illness and their own carrier status. We can move on. Potential harms of newborn screening. False positive results for infants have been an outcome since the earliest days of newborn screening. Potential harms from this include increased anxiety for families and possibly long-term residual anxiety and worries about infants' health. The screening process can identify infants who are carriers of one abnormal allele found in DNA testing. Concerns have been raised about the effects of this knowledge of carrier status on how an infant or child may be treated or potential discrimination within a family or community or potential effects on their self-image. Parents, too, can discover their carriers, which they would not have known about except for newborn screening. How they choose to manage this information is an important issue and they need appropriate counseling and follow-up. In some cases, a diagnosis cannot be reached if they persistently metabolize, which may normalize over time, or DNA variants of unknown significance. For these infants, prolonged engagement with specialty services can be warranted for monitoring their infants over the long term and avoiding potential decomposition by appropriately intervening as needed. We can move on. In recent years, attention has turned to issues of use of residual blood spots, that is, blood filter paper cards left over from the activities of screening. Residual dried blood spots are used in quality assurance by screening laboratories, forensic purposes in identifying children who have been lost, for example, in natural disasters, in the development of new screening tests, and in clinical screening research for disease detection. Because the use of residual dried blood spots was formerly unregulated, a number of court challenges have been issued for the defining the parameters for use of these materials. This includes obtaining permissions from parents for use of their child's residual dried blood spot, return of destruction of screening samples to parents, or return to the child when they reach the age of majority. There is concerted movement towards obtaining parents' permissions or reconsenting parents for use of samples for the aforementioned purposes. So here we'll move on and talk about some of the roles of nurses throughout the screening process. We can move this slide. Nursing personnel are key providers in the running of newborn screening services in both educating parents and communicating newborn screening information to providers and parents. We'll examine some of the roles nurses have within the screening process. Next slide. Newborn screening practice, preconception period. Studies have shown that parents are often under-informed about newborn screening and are surprised to learn about the process or that a heel stick was performed on their infant while in the nursery. Parents' preferences for receiving newborn screen education and information is that it be delivered throughout the prenatal period over multiple sessions during the pregnancy. Obstetricians, nurse midwives and nurses have limited time to deliver instruction about newborn screening and the quandary is how much to tell parents about screening without frightening them or overloading them with information. Reviewing a list of disorders with parents will probably not be useful in the long run. Use of video prints and web-based materials can be helpful and easily accessed by most parents. At least two key topics should be included in these discussions about newborn screening. And these include how parents can access results of screening after birth with their primary providers and pediatric offices and what parents can expect in the case of an abnormal newborn screening result and what happens either as a repeat screen or if a child is referred to the pediatric provider or specialty provider. Next slide. Newborn screening and nursing practice, perinatal period. Informing and educating parents about newborn screening around the time of delivery can be accomplished but must be carefully planned. In the excitement of a new baby, this information about screening can be lost. For the purposes of research or the use of residual dry blood spots, consent processes are necessary. However, few states in the U.S. require formal consent procedures for conducting newborn screening itself. In the interest of an infant's health, newborn screening is a mandatory process with potentially treatable disorders identified in and as part of newborn screening. However, should informed consent be required of parents because the nature of some expanded screening conditions were less as known about them or treatments may not be established. If consent is required for the use of residual dry blood spots, why not inform consent processes and permissions for newborn screening itself? And what is the best time for seeking parents' consent for newborn screening? Parents may refuse screening for their infants but may lack the information and education about this process and be able to do so. Medical and nursing staff may also lack information on how to manage screening refusal and how the infant family can best follow up with pediatric providers. It's important to check institutional and state protocols for guidelines on screening refusal. Two conditions can general heart disease and hearing screening employ point-of-care testing in nurseries. Through further technological developments, more screening tests may be conducted at the bedside for results, for instant results, which removes the process for more centralized state screening laboratories. It can be anticipated that nursing staff will be further involved in these processes of bedside screening. Engaging parents around issues of newborn screening education requires adequate knowledge base of screening and good communication skills on the part of all providers involved in the care of families. This is especially the case when discussing abnormal results with parents with the goal of providing information and helping parents manage their anxieties about the findings. We can move on. Newborn screening in practice, specialty care. Ideally, the referral of an infant for an evaluation of a critically abnormal result is conducted seamlessly through the coordination of pediatric and specialty services. Pediatric offices may be first contacted by state screening labs for an abnormality and is up to pediatricians, nurses, or designated personnel to discuss the results with and plan with parents. This conversation can be highly distressing for parents and fraught with uncertainties about an infant's health. Provider skills in informing and counseling parents are important for reassuring families and directing them in the next steps of the screening evaluation process. Timely screening evaluations with ongoing support for families can be very instrumental in helping families cope with the uncertainties of the evaluation. Next slide. Long-term follow-up of disorders is essential for ongoing management of these conditions. Centralized accumulation of long-term data is gaining momentum for studying clinical outcomes and for research purposes. High-quality chronic disease management with condition-specific treatment and age-appropriate preventive care over the lifespan is crucial. For understanding the natural history of rare disorders and innovative treatments, long-term data collection is necessary. Finally, along with long-term follow-up, continuous quality improvement is necessary for advancing care and innovating services for infants and families with screen-identified disorders and for adapting services to provide for the addition of new screening disorders. Next slide. Opportunities for nurse educators. Nurse educators can avail themselves of the unique features of newborn screening as models for teaching genetics and principles of public health. Newborn screening is care of a genetic patient in action. This can include topics such as discussions between faculty and students about innovations in treatment for some of the newborn screening disorders, principles of diet therapy, and monitoring the effectiveness of diet therapy treatments, and also treatments such as stem cell transplantation. Provider parent communication skills can be honed in practice for discussing newborn screening education information or delivering results to parents. Next slide. There are multiple opportunities for conducting nursing research and multidisciplinary research with regard to the newborn screening process and treatment. Research could include studies conducted on the implementation of biobanking policies and the acceptance and effects on the public, including consent processes in a biobanking. Studies have informed consent for the newborn screening process to include mandatory and elective screening disorders, secondary or experimental conditions, as well as the issues of screening refusal, which would require a digital investigation. Research on comparative service provision for different screening systems could be of value for developing best practices and exploration of new methods of delivering newborn screening information and education to providers would also be of valuable undertaking. Evaluations on cost-effectiveness of screening systems and services, especially as new disorders are added to screening panels are needed, and finally, encouraging the development of multidisciplinary teams of researchers and clinicians for clinical newborn screening studies could be fostered. The newborn screening translational network is one organization designed to bring researchers together for work in newborn screening research. Next slide. New screenings on the horizon. There are additional technological advances that may be feasible for use in newborn screening in the near future. This includes microarray and sequencing the sections of the entire genome. This raises questions, of course, of how incidental findings can be handled and how to manage discoveries of late onset diseases in the newborn period. Ideas for blending personalized medicine with newborn screening or also would be a novel undertaking. And new disorders in the wings for newborn screening include lysosomal storage disease and glycogen storage diseases for which there is an ongoing treatment of enzyme infusion. There is a need for additional public education, research, medical and nursing education to meet the demands for newer screening processes that are on the horizon. Next slide. Here are some websites for newborn screening information and education, and I just wanted to include the web address for the newborn screening network. www.nbstrn.org. This ends the presentation, and we can be open for questions. So I'm opening it up for comment also from Dr. Kemper. If you have any additional comments you would like to add to what Dr. DeLuca has presented. I think that Dr. DeLuca did a great job of presenting an overview of a complex, very exciting area. I think there's no doubt that in the future newborn screening is going to happen more and more at the bedside, which is an exciting opportunity, but also placed new responsibilities for nurses. And as Dr. DeLuca also mentioned, the kind of technologies that we're going to have just a few years in terms of genome sequencing are going to be really exciting, but figuring out how to implement these in a way that there's more benefit than harm is going to be a real challenge, and one of the reasons that's particularly happening is because nurses are really going to play a critical role in how all this happens. So I'll leave it there and look forward to your questions. So I will read the questions and leave the microphones open for both Dr. Kemper and Dr. DeLuca. First comment is very nice, Jane. So the benefits identified for some are disorders or psychosocial benefits, but in the introduction you state the original purpose of the program was for the early detection and treatment to prevent cognitive disability. Why do you think there has been this shift? If there are no direct benefits for the infants, but the benefit may be for others, how do we as nurses communicate this when informing parents of a diagnosis? And that's from Rebecca Anderson at University of Utah. Jane, you mind if I take a first stab at this too? Sure, go ahead. So the things that are recommended by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children are all based on the direct benefit to the affected individuals. So there's nothing on the recommended uniform screening panel where there's no direct benefit to the newborn being screened. It's certainly true that there are these other potential benefits both to the child and to the family that go beyond just health outcomes, avoiding the diagnostic odyssey, allowing families to engage in family planning for certain conditions, a whole host of other things. But knowing how to incorporate that into an evaluation of whether or not a condition should be universally tested is really difficult. And this is one of the things that the Secretary's Advisory Committee is currently wrestling with. But you can rest assured that the things that are on newborn screening right now are designed to benefit the affected individuals. Jane, any additional comments to that? I think it's evolving. I mean, I basically certainly agree with what Alex is saying, but I think that we're finding more issues that are happening in terms of screening and in terms of caring for parents. And I think that although some of these concerns such as alleviating anxiety that accompanies a referral, people are much, much more attuned to that now. So I think we're sort of queuing into these new areas which we need to pay attention to in terms of families that are involved and referred for screening evaluations. So I don't see any additional questions typed in yet, but up there comes one as I say that. Let me find it here. Some newborn screening programs are very concerned about conducting newborn screening research, creating barriers to the production of evidence that could benefit infants and families. How can nurses advocate for research to measure the benefits and understand the risk that can improve the populations we serve? Should I take that one, Jane? Well, I can start. You go. My feeling is that there certainly is a very, very valuable research component that can come along with this and that the blood spots of themselves are incredibly valuable resource for research. We need to be very plain speaking, I think, with families. We need to know what is basically, we need to be able to inform families what happens with the specimens, the disposition of the specimens. There needs to be clear guidelines and clear plans. So I think that we need to be very plain speaking and where consent is applied for this, we absolutely need permissions from people to utilize this. So that's my first stab at that question. Yeah, there's kind of a flip side to that that I want to remind people of, too, which is the conditions that are included in newborn screening are all rare conditions. And so we're still learning a lot about them, especially on the long-term follow-up side of things. So what happens to individuals with PKU is they become adults and you can replace that with all the various conditions. And I can tell you that for the patients that I take care of with rare chronic disorders, they have a very good relationship with the health care team, including our nurses. And I can tell you that there's a lot of work going on to track and evaluate what happens to these individuals both in childhood and as they transition to adulthood and to the degree to which nurses can be actively involved in making sure that these individuals don't get lost in follow-up and they understand what the opportunities are for them to engage in research. I think it's really important. So you have about one minute and I'd like to ask a question because I think it'll lead into what Dr. Turner will be presenting next. And that is with the new testing on the horizon and the possibility of whole genome sequencing, perhaps at birth, what would be the role of the nurse in remaining educated and involved and involved with the policy opportunities for voicing their concerns? So I'd like each of you to just address that a little bit. I'll defer to you, Jane. Well, I think what we need to be as a group of health care providers is, of course, to be very visible and vocal. As new tests are being proposed and rolled out, I think that we need to have our thoughts about this. We need to be at the table as this is happening because we will be discussing these issues with families in the nursery or in other venues. I think we as a workforce need to be extremely knowledgeable about what's happening and cognizant of what's on the horizon and be able to speak to it in terms of the families that we care about. So I think we need a place and we need to be involved in the planning process of this. So that's my first thought. So my thought is, and that's a great question, I have no idea what this is going to play out. This is going to be very complex and I think that this is an issue that doesn't just affect nurses, but I think it affects all of us as individuals. And I think the degree to which the nursing community understands the terminology and feels comfortable and can be precise with exactly what's being spoken about can really be powerful advocates for understanding what's going on and for promoting reasonable policy. This isn't just an issue with nurses, but I can tell you with all healthcare providers that there's really a lack of knowledge about what's going on and exactly what the words mean and so forth. And so I think the degree to which the nursing community can take leadership and really digesting this is going to be really critical, which is why I'm guessing that there are so many people listening into this webinar right now. So that makes me feel good. Well, thank you both very much. There are a couple additional questions that have come in that I will forward to the speakers today and hopefully they will address you individually. But thank you so much, Alex and Jane, for a very nice presentation. Thank you. Thank you. So now I'm going to turn the microphone over to Dr. Martha Turner. As I change her to be the presenter and hopefully be able to see her slides, I will introduce Martha. Dr. Turner, who is the Assistant Director of the American Nurses Association Center for Ethics and Human Rights, she attended the University of Minnesota for a BS and PhD in Nursing and Loma Linda University for her MS in Nursing and Ball State University for an MA in Counseling Psychology. Martha retired in January 2006 from active duty with the Air Force after 30 years and she was a flight nurse and achieved the rank of colonel. Dr. Turner has been a consultant for healthcare ethics to the Air Force Surgeon General as an ex-officio member of the Secretary's Advisory Committee for Genetics, Health and Society to the Minnesota Nurses Association Ethics Committee and the Ethics Advisory Council of the Oncology Nursing Society. And she has also represented nursing on the IOM Round Table for translating genomics-based research for health. During her Air Force career, Dr. Turner also served in many respective positions including the Program Director for International Health at the University of Bethesda, Maryland and teaching in the MPH and PhD doctoral programs. Thanks, Martha, for representing Dr. Madzik and others on this talk today from Ethical, Legal and Social Issues and the Translation of Genomics into Healthcare. All right. Can you hear me now? Maybe speak up a little. Okay. I can speak up a little. And can you take this box away or can everyone see the box? Should I get rid of it? They don't see the box. I'll leave the webinar quickly. Okay. Okay. I'll just leave the box on the side there. Oh, you just do your slide view from the beginning? There you go. Okay. The box is still on the side of my screen, but that's okay. So good afternoon, everybody. I'm delighted to be with you. I'm out here in sunny California for the National Nursing Ethics Conference. It's more like spring here than it is in snowy Minnesota where it was tickly-weasel this morning. I do want to acknowledge all the authors on this paper, but especially Lori Badzik, who took the lead. Notable about this journal and this web series, for those of you who are paying attention, is that ethics isn't last. Do you ever notice that ethics is always last? So what is different? Well, like the Human Genome Project where the scientists built... Martha, you disappeared in your voice a little bit. The planners? Is that better? No. Can you hear me now? Very little. I'm not changing anything. Okay. Go ahead now. All right. The planners of this journal recognize the relevance of the ethics, legal, and social concerns inherent in genomic science and asked us to write this article. So thanks to all. So what is the purpose and why is it relevant? Understanding or having an understanding of these concerns is essential, especially testing, informed consent, confidentiality and privacy, and biorepositories. It's even more important because the discoveries are so rapid on the one hand, but there's a slower translation of them into practice on the other. So today we will look at the ethical foundations, legal foundations, and social concerns and the future of healthcare, finishing with the competencies needed to practice responsibly in this exciting time. Let's look at the ethical foundations. There we have them. The ethical foundations do not eliminate the controversy surrounding a given issue, but provide a common moral underpinning to facilitate the understanding and management of the issues as they emerge. First we have the Code of Ethics for Nurses, published by the American Nurses Association, and there are other codes in the United Kingdom and in Canada. During the last six weeks, the ANA has asked for comments from the public about revising the Code of Ethics for Nurses in the U.S., and we received 2,700 comments, and many of these comments ask that we include the language of genomics and genetics in our revision. The most recent revision to the Canadian Nursing Code notes genomics as a determinant of health and advances in genomics as a social and political challenge in the context of their healthcare system. Ethicists and others who debate the principles of justice, privacy, autonomy, beneficence, and non-maleficence generally agree on what policies, practices, and processes are acceptable, but they have difficulty agreeing on why they are acceptable. The rationales for their arguments are grounded in other perspectives such as day ontology, feminism, which you see here, nurturing or caring, or utilitarianism, doing the greatest good for the greatest number. Some examples are seen on the next slide, and these demonstrate the complexity of ethical discourse. First, a single act may benefit one, but harm another, so we must consider the intended and unintended consequences. This demonstrates beneficence doing good and not doing harm. Next, we have simultaneous conversations at many levels. This demonstrates truth-telling and autonomy. Next, we look at disparities in access, availability, in age disparities, health disparities, gender, financial or economic disparities, disparities in ethnicity and geography, and these demonstrate the principle of justice when we have those discussions. Last example is the desire to be informed or uninformed. Those of you who dialed in today have a desire to be informed, but many patients when receiving genetic information would like to remain uninformed, and we must respect that, and that for those of you who are thinking quickly reflects the principle of autonomy. Relatedness also plays an important part. Thus, narrative, feminist, communitarian and casualist ethics also play a part and must be integrated into the discussion to find the best possible resolution. The article lists many references for those of you who took ethics a few years ago and want to look them up, but I'd like to recommend Beecham and Childress who are on the previous slide because they provide great definitions and really thorough discussion of all of these points. Also, I'd like you to remember that ethically the best resolution is one that infringes leads on the values of those involved. Now let's look at the legal foundations. Human genome organizations principles are listed here. The Ethics Committee for the HGO developed them to consider when the global community is confronted by new technology. The first is remember that not to act is to make a decision. Failing to think about the possible consequences science may create is to allow science to rush ahead in ways that society may later regret. The next is that we need to create laws in the context of human rights. A firm foundation is needed when we make our laws and will address human rights more in just a minute. Consider those benefited or disadvantaged by new knowledge. And to fully understand this, we must consult the communities that are in question. The next one is a no-brainer, you'd think. But we need to base our responses on good science rather than ignorance, mythology, or religion. Related to this is the influence of the media. You know how easy it is for the media to get a piece of science and blow it up into a headline that terrifies people and gets them perhaps both data, quit buying broccoli. The last is that we need to incorporate global mechanisms. We need to create policies in the context of human rights, and this has been addressed in several universal documents. These principles serve as the foundation for the formulation of laws that regulate the translation of genomic information, science, and technology into healthcare. An example of this is the Universal Declaration on Bioethics and Human Rights, adopted by UNESCO in 2005. It's the only internationally accepted source. It's based on the Universal Declaration on the Human Genome and Human Rights Act of 1997 and the International Declaration on Human Genetic Data in 2003. And there are 14 principles, two are key, human dignity and human rights. And we're going to look at human dignity first. Dignity comes from the Latin word dignis, or to be worthy. It's a complex concept, and Clark in 2010 described the concept as an experience of being treated and regarded as important or valuable. It's something that can be bestowed. It's connected to self-concept and self-esteem, and it is in fact a fundamental human right. It has a shared meaning across humanity, and it says that we must not reduce individuals to genetic characteristics. We must respect the uniqueness and diversity of every individual, and it demands that every individual give an informed consent to both the taking and the ultimate use of genetic samples. Here are a couple of examples that illustrate the importance of respecting human dignity or not, as the case may be. The first, the New Zealand study, claimed that when looking at crime statistics that there was an overrepresentation of the Maori, and they explained this by a genetic trait that they called the warrior gene. This got spread all over the media. It was latched onto, and they presented it as racial stereotyping. But the worst thing is, the study was incorrect. The next study about the Havasupai tribe versus the Arizona Board of Regents describes how they were experiencing the negative effects of some genomic studies. The original study was on diabetes. They obtained correctly done informed consent from the participants. But then the researchers continued to use the samples for other studies on diverse topics such as evolutionary genetics, schizophrenia, inbreeding, and population migration. These studies, believe it or not, were published in professional journals. The tribe sued for breach of fiduciary responsibility, lack of informed consent, fraud, intentional infliction of emotional distress, violation of civil rights, among other charges. This claim was settled when the university issued a public apology, returned the blood samples, and agreed to create a scholarship program for the tribal members. So I mentioned informed consent there. So let's look a little bit at that. Informed consent is an example that melds human dignity with autonomy while respecting others. It's a process that requires clear and specific communication. That means we have to create an environment where that can take place. Professionals must foster a relationship of trust and confidence. So we sometimes need to have repeated sessions to make that happen. We have to ensure understanding of what is at stake and what decision making the individuals have. So we have to ask questions, carefully listen to the answers, and get feedback. It's difficult for us to do informed consent when the knowledge is incomplete, as it frequently is with genetics. So we have to be honest about what is actually known. And it obligates us as professionals to be up to date with genetic science. And this is difficult but imperative. One specific worth mentioning about informed consent is the issue of decision making capacity. This is essential to informed consent. Any exceptional use of genetic material without the patient's consent must be narrowly defined, and the patient must benefit from that use. An example would be children who don't have the decision making capacity to allow their samples to be used in studies. Related to this is the duty to inform. In 1976, I have to get the date right there, there was a case, Terrace versus the University of California Board of Regents. This case said that if a therapist is aware that the patient is a serious danger to self or others, the therapist has a duty to exercise reasonable care to protect the foreseeable victim of the danger. Legal guidance similar to this on genetic and genomic testing is not well developed. But it's safe to say that healthcare professionals should talk to their patients about the importance of advising family members on any genetic information that could affect their health. So there is not law yet and people are continually asking should there be laws. So that leads to the question, what is it that makes genetic and genomic information the focus of so much interest? Why all of us? Well, genetic and genomic information is central to the person but extends beyond that individual across generations and over time. So we're talking about children, parents, cousins, and other family members, generations to come. Privacy and confidentiality are honored as with any other healthcare information, but it's somewhat more difficult. This is genetic information of interest to many. Employers, for instance, and insurers, question is who is paying and if you pay, do you have the right to know the results of the test? Employers can ask, might it be right to get this test and know the outcome to avoid harm? This is already used with pilots who are colorblind. It can't be a pilot very well if you're colorblind because you can't see the difference in the colors on the dashboard and all your controls. So we've used genetics for years and years in selecting or not selecting people for certain occupations. But the further we go along with genetic testing, the more of an issue this will become. So there is an act to help protect individuals and that's the genetic information and non-discrimination act of 2008. Gena protects individuals from unfair exclusions on the basis of genetic health information by employers and health insurers. However, exclusions by disability, life, and long-term care policies are not restricted, nor are groups like the military, Veterans Administration patients, or Native Americans who are served by the Indian Health Service. We'll turn now to human rights. This combines human dignity with concepts of equal availability to and benefits from. Genetics and genomics have the potential to expand and reduce disparity and provide improved health outcomes that should be available to all, for instance, receptors. These improved outcomes, once only science fiction, are finding their way into healthcare. For example, personalized information to improve outcomes. There's gene therapy, epigenomics, pharmacogenomics are just a few examples. What does all this mean for the future of healthcare? Direct to consumer testing is one example. It's widely available, for instance, 23andMean, decode, halfway genomics, and even genetic testing for pets to determine what breeds they are. There are problems with the reliability and understanding results of these tests, and also problems with confidentiality and privacy and the questionable meaning of the results. We have a few governmental regulations to guide this process, but you can find some information, which is curious because there's a website that is at the end of the article. It's not on that slide. All right, another consideration with genetic testing is the possibility of incidental findings. These raise ethical and legal issues, for instance, the popular lung non-paternity, as well as finding genetic variants with health implications, and always the recognition that the science continues to develop over time. Remember that possibilities of incidental findings must be discussed before testing. Biorepositories or biobanks are where we collect and store specimens. The numbers of them are always increasing. The specimens are usually meant to be shared by researchers, but the logistics of how that happens is exponentially expanding. It's also outside the scope of existing regulations. So the questions asked are, who can access them? How do they access them? What are they going to use the specimen for? Where will they keep the information and with what security? IRBs often look at these same issues. Additionally, there can be the hazard of potential to trace specimens to donors. Donors can be either the individuals or a group. Nurses participating in research must engage in ethical discourse and policy development, and that's what they talked about at the end of the last presentation, to establish appropriate rules and procedures. So then, what are our challenges? Balancing science and discoveries with societal best interests and protection of moral interests, which is really quite a balancing act. We have more questions than answers, certainly, and we need to continue the discussion. We need to encourage community engagement, and government support is in fact needed. To meet the challenges, we must be competent. So the Secretary's Advisory Council on Genetics, Health and Society in 2011 said that we need to recognize the complexity of translating, interpreting, and delivering genetic information, and they identified a growing need for education and training across disciplines. But as usual, nursing was way ahead. They had already identified this need and developed and published the competencies for nurses. In these competencies, there are professional responsibilities listed, and you can see some material we just discussed is reflected in each of these, that we recognize the impact of one's own values in providing patient care, that we advocate for genomic access, that we learn about and incorporate new technology, that we tailor genomic information based on patient's culture and literacy, and that we evaluate our own knowledge and skills. In 2012, we went a step beyond that and developed competencies for graduate nurses, advanced practice nurses, et cetera, and they are asked to facilitate ethical decision making, apply ethical principles, implement strategies to resolve genomic issues, inform policy, and understand how genomics research can affect human biology and disease to improve health outcomes. Additionally, for doctorly prepared nurses, they are responsible for leading genomic research and for translating its findings into nursing practice, which some say can take as long as 17 years. Let's try to speed that up. So without genomic competency, we have less safe and less effective patient care. We risk negative patient outcomes, which can lead to liability and moral distress. So in conclusion, we have to be aware of the continuous and rapid development in genetics and genomics. To be aware of the complex ethical, legal, and social issues, we have an obligation for competence. But fear not, there are many helpful resources available, many in the journal and in this article in particular, and it is listed here with its website. So thank you very much for this opportunity, and Jean will field the questions. Thank you so much, Martha. As I'm looking at the questions, I also have up here on the slide the next webinar will be April 2, and the two speakers will be on integration of genomics and cancer care and physical, psychological, and ethical issues expansion and caring for individuals with genetic skin disease. So if you would like to attend that webinar, here is the registration access as well. And I did also respond to somebody's question about whether there were handouts for this session. We don't have any handouts per se, but the speakers will allow their slides to be posted in the next couple days along with a video recording of this webinar. So you can access that material as well. And as Martha shared with you on her last slide, each of these articles or each of these webinars are based on the articles that the authors have contributed to the Journal of Nursing Scholarship special issue. And so those articles, a webinar series, and the article itself can be found on genome.gov. So Martha, there were a couple questions coming in, so let me try and read that one for you. I'm concerned with disparities, both adequately informing all of those who may be appropriate for genetic services of their availability and pain for testing or counseling or even treatment within our current healthcare system. Will ACA provide some assurance, I think that meant ANA, provide some assurance of resolving this disparities, do you think? Or am I incorrect, Jeanette? Was that ACA? So Martha, do you want to say anything about health disparities and payment issues? ACA, Affordable Care Act. Thank you, Jeanette. ANA certainly takes an interest in healthcare disparities and often has members that are assigned to different working groups. We review things like ACA and comment on the availability and access to people. So other than reviewing ACA, I can't think of anything specifically that's being done. And I don't know that ACA is going to address genetic testing. It's hard because standard of care is what generates practice. And if something is new, it's not standard of care, so then it's not paid for. So how you get from new technology into practice is one of the major ethical issues that we have today. So ACA addresses it a little bit, but I don't think very well. I'm not that familiar with it. I haven't looked at it for over a year or so. Dr. Calzone is also on the web this morning, and this afternoon, excuse me, and Kathy, I wondered if you had anything you wanted to comment on ACA Affordable Care Act. Yeah, I'm not sure that I'm positioned to comment on ACA. It's something I would have to look into to give an accurate response. So that sounds like it might be an interesting topic for ANA and other nurses to look at, so thank you for asking that question. The next question is, what are the most prevalent ethical issues nurses may face at the bedside now, capitalized now, related to genetics and genomics? Why? I would have to say immediately is competency that many nurses graduated before genetics and genomics were part of the curriculum, and so their knowledge base is sorely lacking. So to become informed about what is going on, either in your particular area of practice, for instance oncology nurses, there's lots going on in genetics and oncology, and so depending on when you graduated and where you went to school and what kinds of continuing education you have, you may or may not be familiar with what's out there. And nurses, half-life of our knowledge is about five and a half or six months, and so it's a constant job to stay updated. So I'd say competency is the first thing a nurse bedside needs to worry about. After that, everything is specific to your area of practice. Kathy, would you like to add anything? No, no. Go ahead. I would just add the issue of informed consent for any kind of genetic test. I think that it is building on what Martha has highlighted as far as competency to be able to explain to people what kind of test they're getting and what information it provides and doesn't provide and whether there are other incidental potential findings that could have implications. All of that is related to competency. You can't get there to the point of explaining a test and its implications without being competent, but I would pull out informed consent to something building on competency. It's a critical piece of everything that we do, and this just adds another element to it. Thank you both. We're reaching the end of the time, but there's one more question that I'll read and hopefully will be able to answer. Are there providers limited time with patients? Do you have advice for how we as educated nurses can help these providers ensure that their patients are fully informed prior to initiation of various genetic genomic tests? We all know that these tests, including direct consumer tests, are being perpetuated, often with very little knowledge on the part of the patient. Boy, I tackle this way the same way we tackle the educational issues of patients all along in the limited time we have with them, and that is prepare printed information for them in language that they can understand. If you have computers in your clinics, make them available to the patient so they can look things up or can read things. Take advantage of everything that's published by NIH and other specialty organizations have lots of things published on genetics and what it means to you. Certainly the people who produce those tests have patient teaching materials associated with them, so take advantage of everything that's out there and make sure you're on the same page with the providers that you're working with. I would agree with that, Martha. I think you've sort of covered the gamut. There are lots of alternate resources that can be supplemental, and I would just remind people that in primary care, even in that circumstance, depending on the role that you play in primary care nursing may have, but not in every case, more time with the patient and it provides an opportunity for education and things like family history assessment that the main provider may not be able to have time to include. Working together to figure out what role people play can be important in sort of expanding what role nurses play in primary care. And I think that's a very good way to end the sessions today is recognizing that all healthcare providers are in the same situation that we're all learning new and exciting information but also very complex information and that we can rely on each other. There are specialists, genetic counselors and genetic geneticists as well as pharmacists who may know the pharmacogenomics and physicians in their specialty areas that may be very valuable in working as team members. So it is a challenge for all of us but that's why we're trying to offer the special issues and the special presentations to be able to begin to think about these issues and build upon the knowledge base that we already have. And I thank Dr. Martha Turner for presenting this second presentation and welcome all of you to then, if you'd like to download the slides at a future point in time or the video, it will be available within about a week. Thank you all and look forward to seeing you next time. Jeannie, are you there? I'm going off. Okay, I was looking out to the slides that didn't have that website on it. I can send you the website and you could add it if you would.