Tip:
Highlight text to annotate it
X
Female Speaker: I will now be recording. Welcome to our webinar
this afternoon. There are two speakers and two content items for your information. This
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 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 were 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 A.A.S. degree
in Kingsborough Community College, a B.S. 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 Ph.D. studies in 2010 at University of Rochester
New York. And Dr. Deluca's research interests include newborn screening, of which she'll
be talking about today, provider-parent communication, and genetic education on the Internet.
The co-author for the newborn screening paper, provided in the special issue by the Journal
of Nursing Scholarship on Newborn Screening, was Dr. Alex Kemper, who's 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 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 I change the audio, you'll be able to speak,
Jane, just give me one moment.
Jane Deluca: 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 bio-banking,
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 --
Female Speaker: The broadcast is now starting. All attendees
are in listen-only mode.
Jane Deluca: A brief history of newborn screening, in the
early 1930s, a Norwegian physician and biochemist, Asbjorn Folling, identified an unusual metabolic
compound, phenylpyruvic acid, in the urine of two children with cognitive regressions.
He identified an inborn error of metabolism, inbasilitist phenylpyruvica [spelled phonetically],
which is later termed phenylketonuria, or PKU. In the following decades, a diet treatment,
lowered phenylalaline for PKU, was developed by Dr. Horst Bickel of Germany, which could
prevent delays associated with PKU. In the 1950s, Dr. Robert Guthrie of Buffalo, developed
a method, a bacterial inhibition assay, for accurately measuring phenylalanine levels
from small amount of blood spotted on filtered paper cards.
Female Speaker: Jane, can you show your slides, please? I'm
sorry, I'm not seeing those.
Dr. Jane Deluca: I have it up on my screen.
Female Speaker: Kathy, can you see her slides?
Kathleen Calzone: No, I was trying to figure out how to send
you a message to tell you that.
[laughter]
Jane Deluca: Shall I end the show and then try to put them
up again?
Female Speaker: Let me go ahead and pull them up. I'm so sorry.
Okay, which slide are you on, Jane?
Jane Deluca: I am on three.
Female Speaker: Okay, go ahead. I will need to turn it over
to me, though. Hold on one second. Okay, go ahead.
Jane Deluca: Okay. So we are actually on four, I think.
We've moved ahead to four? And can we go back one?
Female Speaker: It's not moving yet. Is that where you want,
Jane?
Jane Deluca: Yeah, [affirmative. 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 of Buffalo developed a method, the bacterial inhibition assay for accurately
measuring phenylalanine levels from small amounts of blood spotted on filtered paper
cards. This method was applied to a mass 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 States 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. Now, in some instances,
states screens include DNA testing for specific mutations and select conditions, such as cystic
fibrosis, a medium chained 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 a 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 filtered paper card, which is dried and sent to a designated screening
lab for analysis. Within seven to 10 days, screening results are available. The vast
majority of newborn screens are 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 [spelled phonetically], 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 disorders screened for. Since the advent of the standard 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 [inaudible]
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's sufficient evidence available to decide -- to assign
the disorder to a work group for review of the condition. Evidence review is rigorous.
It includes a literature review, prevalence of the disorder in the population, whether
there's 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 that 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 use choose different disorders to include on their panels
or not. A current list of each state's disorders can be found at www.genesareus. 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 of 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, but
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 of families not specifically associated with treatment. Early identification of the
disorder permits parents to quit the agonizing diagnostic odyssey which often accompanies
the search for a diagnosis for 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 in
outcomes 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
infant's 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 and 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 they're 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
due to persistently abnormal metabolites, 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
decompensation 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
filtered paper cards leftover 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 national disasters, the development of new screening
tests, and in clinical screening researched for disease detection. Because the use of
residual dried blood spots was formally 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 returned 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 the 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 in practice, pre-conception period. Studies have shown that parents are
often underinformed 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 screening education and information is that it be delivered throughout
the prenatal period over multiple sessions during the pregnancy. Obstetricians, nurse
mid-wives, 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 will 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 through 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 in 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 where less is known about them, or treatments may not be established?
If consent is required for the use of residual dried blood spots, why not informed consent
processes for -- 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, congenital 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 instant results, which removes the process for more centralized
state screening laboratories. It can be anticipated the nursing staff will be further involved
in these processes of bedside screening. Engaging parents around issues of newborn screening
education requires an adequate knowledge base 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.
Newborns 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 it 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 and 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 with 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 life span 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 as care for 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 and practiced 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 bio-banking policies, and the acceptance and effects on
the public, including consent processes in bio-banking. Studies of informed consent for
the newborn screening process to include mandatory and elective screening disorders, second tier
or experimental conditions, as well as the issues of screening refusal, which would require
additional investigation. Research on comparative service provision for different screening
systems [spelled phonetically] could be a value for developing best practices, an exploration
of new methods of delivering newborn screening information; an education to providers would
also be a valuable undertaking. Evaluations on cost effectiveness of screening systems
and services, especially as new disorders are added to screening panels or 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 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 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's 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, that's www.nbstrn.org.
This ends the presentation, and we can be open for questions.
Female Speaker: 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.
Alex Kemper: I think that Dr. Deluca did a great job of
sort of pinning [spelled phonetically] an overview of a complex but 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 would be an exciting opportunity, but also place new responsibilities
for nurses. And as Dr. Deluca also mentioned, the kind of technologies that we're going
to have in 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 particularly happens [unintelligible]
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.
Female Speaker: 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 are 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 the diagnosis?" And that's from
Rebecca Anderson [spelled phonetically] at University of Utah.
Alex Kemper: Jane, you mind if I take a first stab at this?
Jane Deluca: Yes, sure, go ahead.
Alex Kemper: 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 individual, so there's nothing on the recommended
uniform screening panel where there is no direct benefit to the newborn being screened.
Although 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 kind of wrestling with. But you can rest assured that the things that
are on newborn screening right now are designed to benefit the affected individual.
Female Speaker: Jane, any additional comments to that?
Jane Deluca: 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, you know, people are much, much more attuned to that now, so I think we're
sort of cueing into these new areas where we -- which we need to pay attention to in
terms of families that are involved and referred for screening evaluations.
Female Speaker: So I don't see any additional questions typed
in yet, but 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 risks that can improve the populations
we serve?"
Alex Kemper: Should I take that one, Jane?
Jane Deluca: Well, I can start.
Alex Kemper: Well, why don't you go? You go.
Jane Deluca: You know my feeling is that there certainly
is a very, very valuable research component that can come along with this, and that the
blood spots, in and 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, you know, we absolutely
need permissions, you know, from people to utilize this. So that's my first stab at that
question.
Alex Kemper: Yeah, you know, there's kind of a flip side
to that that I would 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 as they become adults? You can, you know, 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 healthcare 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, to follow up, and they understand, you know, what the opportunities are for them
to engage in research, I think it's really important.
Female Speaker: 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? And so I'd like
each of you just to address that just a little bit.
Alex Kemper: I'll defer to you, Jane.
Jane Deluca: 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 and in other venues. So 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, you know, in terms of the families that we care about,
so we -- I think we need a place, and we need to be involved in the planning process of
this, so -- and that's my first thought.
Alex Kemper: Well, my thought is -- and that's a great
question, I have no idea how 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, for promoting
reasonable policy. But this isn't just an issue with nurses, but I can tell you with
all health care 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 that the degree to which the
nursing community can take leadership in really digesting this is going to be really critical,
which is why, I'm guessing, that there's so many people listening into this webinar right
now, so that makes me feel good.
Female Speaker: Well, thank you both very much. There are
a couple of 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.
Alex Kemper: Thank you.
Jane Deluca: Thank you.
Female Speaker: 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 B.S and Ph.D.
in Nursing, and Loma Linda University for her M.S. in Nursing, and Ball State University
for an M.A 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,
the Minnesota Nurses Association Ethics Committee, and the Ethics Advisory Counsel of the Oncology
Nursing Society. And she has also represented nursing on the IOM Roundtable for Translating
Genomics-Based Research for Health. During her Air Force career, Dr. Turner also served
many -- in many respected positions including the program director for International Health
at the Uniformed Services University in Bethesda, Maryland, and teaching in the MPH and Ph.D.
Doctoral Programs. Thanks, Martha, for representing Dr. Badzek and others in this talk today from
Ethical, Legal, and Social Issues in the Translation of Genomics into Healthcare.
Martha Turner: All right, can you hear me now?
Female Speaker: Maybe speak up a little.
Martha Turner: 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?
Female Speaker: They don't see the box.
Martha Turner: [inaudible] webinar. Okay, cancel that. Okay,
I'll just leave the box on the side there.
Female Speaker: Oh, you just do your slide view from the beginning.
There you go.
Martha Turner: Okay. The box is still on the side of my screen,
but that's perhaps -- 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 six degrees this morning. I do want to acknowledge
all the authors on this paper, but especially Laurie Badzek, 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. You ever notice ethics is always last? So what is different? Well,
like the Human Genome Project, where the scientists built --
Female Speaker: Martha, you disappeared in your voice a little
bit.
Martha Turner: -- the planners -- that better?
Female Speaker: No.
Martha Turner: Can you hear me now?
Female Speaker: Very little.
Martha Turner: I'm not changing anything.
Female Speaker: Okay, go ahead now.
Martha Turner: 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 in
the future of health care, 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
illuminate 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 they're 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 the comments asked 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 health care system.
Ethicists and others who debate the principles of justice, privacy, autonomy, beneficence,
and nonmaleficence 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 deontology, 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 that -- 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; and
age disparities, health, disparities, gender, financial, or economic disparities; disparities
in ethnicity and geography; and these demonstrate 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 be -- 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 just a few years ago
and want to look them up. But I'd like to recommend Beauchamp 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 least on the values of those involved.
Now let's look at the legal foundations. Human Genome Organization's 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 we'll address human rights more in just a minute. Consider those benefitted
or disadvantaged by new knowledge. And to fully understand this, we must consult the
communities with our 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,
let's say, to 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
health care.
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 dignus, 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 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 over-representation 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 worse thing
is that the study was incorrect.
The next study about the Havasupai tribe versus the Arizona Board of Regents describes how
they were -- experienced 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, Tarasoff 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 the fuss? 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 confidentially -- confidentiality, I'm sorry, are honored as with any other health
care information, but it's somewhat more difficult.
This is -- genetic information is 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. You 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 Nondiscrimination
Act of 2008. GINA protects individuals from unfair exclusions on the basis of genetic
health information by employers and health insurers. Exclusion -- however, exclusions
by disabilities, life, and long-term care policies are not restricted, nor are the 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,
Herceptin. These improved outcomes, once only science fiction, are finding their way into
health care. 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 health care? Direct-to-consumer testing is
one example. It's widely available, for instance 23andMe, Gene Code, Pathway Genomics, and
even genetic testing for pets to determine what breed they are. There are problems with
the reliability and understanding the results of these tests, and also problems with confidentiality
and privacy, and the questionable meaning of the results.
We have few governmental regulations to guide this process, but you can find some information,
which is curious, because there's a website that's 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 one, 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. Potentially, there can
be the hazard or potential to trace specimens to donors. Donors can be the individuals or
a group. Nurses participating in research must engage in ethical discourse and policy
development. And that's what we -- 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 discovery with societal best interest
and protection of moral interest, 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 identify -- 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 patients' 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 doctorally-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 developments in genetics
and genomics. We have 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 Jane will field the questions.
Female Speaker: 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 2nd,
and the two speakers will be on Integration of Genomics in Cancer Care, and Physical,
Psychological, & Ethical Issues Expansion in 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 are 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's Special Issue. And so those
articles, 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 to read this one
for you. "I'm concerned with disparities, both adequately
informing all those who may be appropriate for genetic services of their availability,
and paying for testing or counseling, or even treatment within our current health care system.
Will ACA provide some assurance --" I think that meant ANA "-- provide some assurance
of resolving these disparities, do you think?" Or am I incorrect, and that -- was that ACA?
So, Martha, do you want to say anything about health disparities and payment issues? ACA,
Affordable Care Act. Thank you, Jeanette [spelled phonetically].
Martha Turner: ANA certainly takes an interest in health
care 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 that a little bit, but I don't -- I'm
not that familiar with it. I haven't looked at it for over a year, probably.
Female Speaker: Dr. Calzone is also on the web this morning
-- this afternoon, excuse me, and Kathy, I wondered if you had anything you wanted to
comment on ACA, Affordable Care Act?
Kathleen Calzone: Yeah, I'm not sure I'm in position to comment
on ACA. That's something I would have to look into to give an accurate response.
Female Speaker: So that sounds like it might be an interesting
topic for ANA and the 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" -- capitalize now -- "related to genetics and genomics?"
Martha Turner: Well, I would have to say, immediately, it's
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 lot
going on in genetics in oncology. And so depending on when you graduated, and where you went
to school, and what kinds of continuing education you've had, 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 competence is
the first thing a nurse at bedside needs to worry about. After that, everything is specific
to your area of practice.
Female Speaker: Kathy, would you like to add anything?
Kathleen Calzone: I would just add, you know, the issue of informed
consent for any kind of genetic test. I think that it is -- [coughs], excuse me -- building
on what Martha's 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 as something
building on competency. It's a critical piece of everything that we do, and this just adds
another element to it.
Female Speaker: Thank you both. We're reaching the end of
the time, but there's one more question that I'll read, and hopefully you'll be able to
answer. "Given primary care 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-to-consumer tests, are being perpetuated, often with very little knowledge on the part
of the patient."
Martha Turner: All right, I tackled this one the same way
we've tackled the education issues of patients all along in the limited time we have with
them. And that is, prepare printed information for them in language they can understand.
If you have computers in your clinics, make them available to the patients so that 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
material associated with them. So I'd take advantage of everything that's out there,
and make sure you're on the same page as the providers that you're working with.
Female Speaker: Kathy.
Kathleen Calzone: I would agree with that, Martha. I think you
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. And
so working together to figure out what role people play can be important in sort of expanding
what role nurses play in primary care.
Female Speaker: And I think that's a very good way to end
the session today, is recognizing that all health care 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 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 these special issues and these 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 in about a week. Thank you all, and look forward to seeing
you next time.
[end of transcript]