TUES 9/23 1:30-5:00 PM
President’s Lounge
Connelly Center
1:30-1:55
FACULTY PAPERS
Mendel and Genetics in American High Schools:
A Brief Survey of Content Standards in Twelve States
Rachel Rubin-Green M.S., Culver City High School
Culver City, California 90230
Abstract: Mendel’s legacy includes establishing the study of heredity, now called
Genetics, as a distinct area of study within Biology. Since the 2001 enactment of the No
Child Left Behind law, states have established content standards for High School Science
courses. These standards drive textbook selection, curriculum content and student
assessment. While preexisting National Science Education Standards (NSES) developed
by the National Academy of Sciences in 1993 may serve some state Departments of
Education as optional non-binding guidelines, actual subject specific content standards
vary dramatically from one state to another. This study examines Genetics content
standards in Biology and/or Life Sciences for grades 9-11 in twelve deliberately selected
states and compares them to the NSES recommendations. One third of over 48 million
children attending US public schools live in California, Texas, New York, or Florida, so
standards from those states are included, as well as eight other geographically and
demographically diverse states. In keeping with the Molecular Genetics emphasis of the
NSES, all states surveyed require that students learn the structure of DNA and its role in
protein synthesis. Most states require students to learn meiosis and the attendant
segregation of alleles. Some states expect students to predict monohybrid cross outcomes.
A few states specify learning Mendel’s laws. While almost all textbooks continue to
mention Mendel and his work, Mendelian principles are increasingly taught as simply the
historic precedent to contemporary knowledge of DNA, Protein Synthesis, and
Biotechnology; subjects which predominate in the state standards examined. The author
suggests an alternative role for Mendel in the High School curriculum. NSES Standard G
states that Science is a human endeavor, and Scientists are shaped by their personal
beliefs and the world they live in. In our increasingly molecular world, the most
important lesson in the life and work of Gregor Mendel is that he lived the dynamic
synthesis of Science and Religion. This is a legacy worth celebrating and teaching.
1:55-2:20 pm
Finding Gregor Mendel’s Original Documents
Laryl Lee Delker, with Peter Dodson, Professor of Anatomy
School of Veterinary Medicine and Professor of Earth and
Environmental Science, University of Pennsylvania
Follow the amazing path of this substantial collection of Mendel’s original documents
over 70 years from Brno in the present Czech Republic, through Belgium, Covington
KY, Notre Dame University, Ottawa CA, Philadelphia, and finally to to Thomas More
College in Covington again.
2:20-2:45 pm
Genomics and the Changing Paradigm of Health Care:
Are We Prepared?
Suzanne Tracey Zamerowski, Ph.D ,RN, Villanova University
College of Nursing
Abstract: Recent advances in genomic research have created a new understanding of the
role of genetics in health and disease. The Human Genome Project, a 13-year
international program, resulted in the mapping and understanding of the genes of human
beings, known as the genome. Launched in 2003 ENCODE, the Encyclopedia of DNA
Elements, is a current project whose goal is to examine the functional elements in the
human genome sequence to gain comprehension of the role of individual genes in
disease. The HAP Map international project, initiated in 2002, seeks to explore genetic
similarities and differences in human beings. This project’s goal is to develop a tool to
enable identification of genes in the human genome and genetic variations that affect
health and disease in response to environmental agents. These findings have resulted in a
new paradigm of health care, “Genomic Medicine”, which views genetics as key to
health, whether inherited or environmentally induced. Genomic research has created new
opportunities for diagnosing and predicting disease, drug design, gene therapy, and
disease intervention. Although genomic medicine offers great promise for health
promotion and disease prevention, it poses major challenges: concerns about fairness in
use of genetics information, privacy and confidentiality issues, psychological impact of
genetic differences, and uncertainty about use of genetic tests to determine susceptibility
to complex health conditions. These issues need to be examined if the benefits and
opportunities presented by genetics research are to be realized. Central to these issues is
the need for education of health care professionals and the general public. Few health
care providers (HCP) have adequate genetics knowledge to enable them to incorporate
genomic tools in their clinical practice. Although the public is exposed to genetics
information in the media, the quality and the accuracy of that information can be
questionable and confusing. This paper will explore the needs of HCP and the public for
genetics education and will propose strategies to promote genetic literacy. Topics to be
addressed include consumer education about genetic risks, genetic technology, informed
decision-making for consumers and strategies for HCP to in order to provide genetically
competent care. Developing a plan to address these issues will provide a positive
approach to advancing genetics literacy consistent with the increasing genomic
discoveries.
2:45-3:10 pm
The Evolution, Status, and Future of Forensic DNA Technology in
the United States
Lawrence A. Presley, MS, MA, D-ABC, Assistant Professor and
Director, Graduate Forensic Science Program, Arcadia University
Glenside PA
…and by this agony there appeared in her the inheritance of Eve…
Confessions of St. Augustine
Abstract: Mendelian and population genetics have played significant roles in the
development and use of forensic DNA technology in the United States. Two National
Research Council published studies in 1992, DNA Technology in Forensic Science, and
1996, The Evaluation of Forensic DNA Evidence, explored and finally resolved the
genetics issues regarding DNA technology. Also, plant genetic analysis of marijuana and
other plant materials have been useful in solving criminal cases just as plant studies were
useful to Mendel in solving genetic inheritance.1,2 So the history and development of
DNA technology is closely associated with Mendel and his studies. The current use of
DNA includes short tandem repeats and mitochondrial DNA analyses, and the sensitivity
of PCR based technologies has allowed the detection of very small quantities of DNA.
DNA analyses and the combined DNA index system (CODIS) database has increased the
ability of the criminal justice system to solve numerous types of criminal cases, some
previously unsolved and/or until now unsolvable. Saks and Koehler (2005) have
suggested that forensic DNA technology has led and changed the existing paradigm for
personal identification in criminal cases. They offer that DNA is an application of
knowledge derived from core scientific disciplines (which include Mendelian genetics),
the courts and scientists have scrutinized the applications of the technology in individual
cases, and DNA typing has offered a data-based, probabilistic assessment of the meaning
of evidentiary matches. DNA analysis has withstood numerous Frye and Daubert court
challenges for acceptance by the criminal justice system. In Frye (1923) the court
declared that reliable scientific evidence “…must be sufficiently established to have
gained general acceptance (italics added) in the particular field in which it belongs.” The
courts established a new approach in 1993 to scientific evidence such as DNA
technology. The Daubert court decision required the determination of whether the expert
will testify to “scientific knowledge that … will assist the trier of fact to understand or
determine a fact in issue.” Accordingly, if the evidence survives, the trier should
consider: (1) Whether the theory or technique “can be (and has been) tested… (2)
Whether the theory or technique has been subjected peer review and publication”… (3)
The known or potential rate of errors… 4. The existence and maintenance of standards
controlling the technique’s operation” and, (5) its general acceptance within the related
community.3 DNA evidence has become routinely accepted by most courts in the United
States. Although DNA is now commonly accepted by U.S. courts, daunting policy issues
still remain. Taylor et al (2007) have suggested that the DNA backlog issues present
significant policy issues if DNA technology use continues to grow and expand in the
criminal justice system.4 The use of DNA for post-conviction, post-exoneration, and
post-conviction post mortem death penalty cases has raised numerous issues regarding
the availability of DNA analyses in significant numbers of serious criminal cases. The
mandatory DNA testing of available materials in death penalty cases is and remains a
significant public policy issue. The ubiquitous use of DNA will continue to raise
important criminal justice policy questions, and challenge the system to effectively and
fairly use scientific evidence in the resolution of criminal cases.
3:10-3:35 pm
Genetics and Nanotechnology (Nanogenetics): Social and Moral
Implications
Rick Eckstein Ph.D, Department of Sociology, Sally Scholz Ph.D.,
Department of Philosophy, and Randy Weinstein, Ph.D.,
Department of Chemical Engineering, Villanova University
Abstract: In recent years the tools and knowledge gained in the field of nanotechnology
has enabled the scientist and engineer to accomplish tasks that used to be associated with
the science fiction realm. In the field of genetics, it is now possible to manipulate
biomaterials such as DNA at the nanoscale (10-9 meters or one billionth of a meter). Our
new found abilities and understanding have the potential to fight and cure cancer, correct
genetic defects, produce drought resistant crops, eliminate birth defects, re-grow hair,
improve drug delivery, and change the way medical diagnoses are made. With this new
technology making health care and food costs cheaper, the possible negative impacts on
society remain highly unexamined. Even with the great advancements of nanotechnology
the questions of environmental effects, societal acceptance, the definition of life,
regulations and government intervention, and ethics remain under examined and not well
understood compared to the actual science and technology of the field. The social,
cultural, and economic challenges generated by Nanotechnological research (and its
applications) abound. Among the most important of these challenges is the “opportunity
cost” associated with this research and its purported social applications. There is a good
chance that these scientific breakthroughs may contribute to the alleviation of social ills
such as cancer, food shortages, and birth defects. But, these positive contributions will
take many years and cost tens of billions of scarce dollars. Meanwhile, there are far more
simple processes that can immediately address human suffering at a much more modest
cost. Universal access to vaccinations and pre-natal care could probably save tens of
thousands of lives a year. Politically addressing the unfairness of so-called “free trade
agreements” could alleviate more hunger in a year than all the nanotechnologically
modified crops might ten years from now. This is very similar to our scientific and
cultural infatuation with the human genome project and its emphasis on eliminating
purported aberrations of our DNA. As a society, we seem drawn to the grandiose and hitech rather than quiet and lo-tech. Human communities may not be well-served by such
an ideology. Nanogenetics have tremendous potential for human good. But, as the social
implications suggest, simply because we can do something does not always mean we
ought to. In this brief presentation we will raise a number of questions about the positive
and negative ethical implications of nanogenetics with an eye toward proposing a
framework for moral decision-making in the field. In addition to examining some of the
foreseeable potential good for individuals affected by curable genetic diseases through
the use of nanotechnology, we suggest that the social implications and harm to the
common good ought to be considered in our moral deliberations regarding the use of
nanogenetics. For instance, how will nanogenetics affect such communal values as
diversity and equality? Further, we will address the question of power: If it can be
presumed that there are some things that we not only can do but that we also ought to do
with nanotechnology, then we need to ask the further question of who ought to do them.
Throughout, our ethical insights will be guided by the values of solidarity and
subsidiarity found in Catholic Social Teaching.
3:35-4:00 pm
Implications of the Genetic Information Nondiscrimination Act
of 2008 (GINA)
Rev. James J. McCartney, OSA, Ph.D., Department of
Philosophy, Villanova University; and Michael P. Moreland,
J.D., Villanova University School of Law
Abstract: On May 31, 2008, President George W. Bush signed the Genetic Information
Nondiscrimination Act of 2008 (GINA). This law, a culmination of a 13-year legislative
saga, protects consumers from discrimination by health insurers and employers on the
basis of genetic information. In the early to mid-1980s, many people diagnosed with
AIDS or HIV positivity were denied insurance coverage and lost jobs because of their
diagnosis. Genetic counselors , researchers, and therapists have, with good reason, been
concerned that people who could benefit from genetic counseling and therapy would
avoid these activities because of fears of losing their insurance coverage or their jobs.
Thus, counselors and geneticists have been working for more than a decade to protect the
bearers of adverse genetic information from discrimination by employers and by the
insurance industry. The newly passed federal legislation protects bearers of genetic
information even more effectively than the HIPAA regulations that were put in place
several years ago to protect medical privacy and confidentiality. The Act: Prohibits group
and individual health insurers from using a person’s genetic information in determining
eligibility or premiums. Prohibits an insurer from requesting or requiring that a person
undergo a genetic test . Prohibits employers from using a person’s genetic information in
making employment decisions such as hiring, firing, job assignments, or any other terms
of employment. Prohibits employers from requesting, requiring, or purchasing genetic
information about persons or their family members. Will be enforced by the Department
of Health and Human Services, the Department of Labor, and the Department of
Treasury, along with the Equal Opportunity Employment Commission; remedies for
violations include corrective action and monetary penalties. In this paper we will briefly
discuss the legislative history of this Act before considering many of its implications,
such as those mentioned above, for genetic research, counseling and therapy.
4:00-4:25 pm
Direct-to-Consumer Genetic Testing: Genetic Counselors’
Attitudes and Practices
Carolyn B. Heuer, Arcadia University, Elissa R. Levin,
Navigenics, Curtis R. Coughlin, II, Children’s Hospital of
Philadelphia, and Laura J. Conway, Arcadia University
Abstract: Genetic testing can identify risks to an individual’s health as well as risks to
children or other family members. Under the traditional genetic testing model,
individuals meet with a genetic counselor or other medical professional to discuss the
benefits and limitations of testing before the testing is performed. Results are provided to
the medical professional, who then discusses the results and their implications with the
patient in order to design a medical management plan. However, marketing of genetic
tests directly to the consumer (DTC) by testing companies is becoming increasingly
common. In some cases, companies who provide DTC testing do not require the
involvement of any health professionals. As the spectrum of available tests becomes
more complex, the concern over the lack of oversight of the clinical validity and utility
grows. There is a potential conflict in DTC testing between the rights of individuals to
control their own health information (autonomy) and the need to ensure individuals
understand the test results and receive the proper follow-up health care (beneficence).
Because genetic counselors are so often involved in genetic testing, this study
investigated genetic counselors’ attitudes and practices regarding DTC genetic testing. A
mixed quantitative and qualitative survey was posted on the National Society of Genetic
Counselors’ listserv. Overall, responses from survey participants (n = 144) yielded a
mean favorability score of -4.590 on a scale of -14 to +14 (SD = 5.131), indicating that
genetic counselors do not view DTC genetic testing favorably. Counselors who felt more
negatively toward DTC genetic testing were less likely to engage in an initial discussion
of DTC genetic testing as a viable option with a patient (Pearson = 0.345, p < 0.01), but
their opinions did not affect the likelihood of accepting a patient for counseling after
DTC genetic testing had already been conducted (Pearson = 0.793, p > 0.05). The vast
majority of all participants believe that DTC genetic testing needs better regulation, that it
increases patients’ requests for testing that are not clinically indicated, and that it does not
portray patients’ risks accurately. As uniquely qualified individuals, genetic counselors
are in the position to apply their expertise to the development of DTC policy and thereby
improve delivery of genetic services to the public.
4:25-4:50 pm
Prenatal genetic counseling referral perceptions in English and
Spanish speaking patients
Amanda Dewys M.S., Christina Armeli M.S., C.G.C, Gabriela
Segal M.A., Kathryn Spitzer Kim M.S., C.G.C.
Abstract: Equal access to health care, including genetic services, is a fundamental ethical
principle. Patients who are not native English speakers may have difficulty
understanding the services provided by genetic counselors. These patients may not
perceive that they may benefit from attending an appointment with a genetic counselor.
For those who follow through with the genetic counseling session, they may not
understand that they have choices as to whether to pursue genetic testing. This study
investigated Latinas’ understanding of and perceptions of genetic counseling services in
the prenatal setting. Patients’ perception of their reason for referral to a genetic counselor
is an important component to genetic counseling, as it may influence their comfort level,
expectations, and outcome of the genetic counseling process. Studying the perceptions of
Spanish speaking patients as compared to English speaking patients could assist in
meeting the needs of a multicultural society. In this study, a survey was given to patients,
whose primary language was either Spanish (n=31) or English (n=64), prior to their
prenatal genetic counseling appointment. The survey consisted of a few demographic
questions, a checklist regarding the role of genetic counselors, a place for patients to
indicate their perceived clarity and comfort level about the referral on a 10 cm scale, and
one open ended question asking why the participant believed they were referred to
genetic counseling. Results showed that Spanish speaking Latinas have significantly less
knowledge of the role of a genetic counselor (the mean scores were 72% for English
speaking respondents and 52% for Spanish speaking respondents (t(93) = 5.2, p < .05)
This may be due in part to the fact that in our study population 80% of the English
speaking respondents had an education level of some college or above while 80% of the
Spanish speaking respondents had an education level of high school or below. In
addition, most Spanish speaking respondents were referred by the local clinic while most
English speaking respondents were referred by their obstetrician; it is possible the
primary care providers give different information to patients. The groups also differed in
the mean score for perceived clarity with a mean score of 7.43/10 in the English speaking
group and 4.59/10 in the Spanish speaking group (t(88) = 3.7, p < .05). Comfort levels
did not differ between the groups. This study suggests that many patients do not fully
understand the role of a genetic counselor. The results also indicate a disparity between
the Spanish and English speaking groups in understanding, as well as in educational level
and in the provider of obstetrical care. Greater efforts have to be made by the medical and
genetics communities to educate and inform the Spanish speaking patients so they receive
more equitable prenatal care.
TUES 9/23
7:00-9:00 pm
Theatrical Production
Reinventing Eden
by Seth Rozin
REINVENTING EDEN is written by Seth Rozin and produced at InterAct Theatre
Company, a professional company in Philadelphia committed to investigating political,
ethical, and social issues in depth, non-polemically.
In exploring the moral, ethical, and legal implications of genetic manipulation, this play
does not prescribe “answers” but invites viewers to wrestle with values and relative
scientific benefits and dangers. During its world premiere production (April/May 2006),
its central ideas were also the subject of 2 University of Pennsylvania scientific symposia,
"Where Are We?" and "Where Are We Going?" April 29, 2006, chaired by Dr. Art
Caplan, Director of the Center for Bioethics at the University of Pennsylvania. Many
geneticists attended the production during its month-long run and were extraordinarily
excited and moved.
InterAct is one of only half a dozen theatre nationwide with a politically-based mission,
and is among the original 15 member theatres of The National New Play Network, an
alliance of not-for-profit professional theatres that champions the development,
production and continued life of new plays for the American stage. --Harriet Powers