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Letter to the Editor

A New World View of Genetics Service Models

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Dale Halsey Lea, MPH, RN

Abstract

Identification of the components of the Human Genome and their relevance to health and disease is revolutionizing the provision of genetic services and all areas of health care. New genetic tools to diagnose, manage, and treat common diseases, along with Web-based innovations are changing the shape of how genetic services will be accessed and delivered. These advances represent a "bionic convergence" that will fundamentally transform medicine during the next few decades. The convergence of biotechnology and electronics is creating an expanding array of health care opportunities for clients and offers innovative opportunities for health promotion, restoration and management. Families and communities will soon be able to participate more fully in the direction and design of their own genetic health. Nurses with their long history of providing holistic, family-centered care in all practice settings, can help to create new dimensions to their practice to support their clients as they meet these health care innovations. This article explores a New World view of genetics services, and describes futuristic models for their provision. Nursing participation in and preparation for future genetics services also is described.

Citation: Lea, D. (September 30, 2000). "A New World View of Genetics Service Models." Online Journal of Issues in Nursing. Vol. 5, No. 3, Manuscript 5. Available www.nursingworld.org/MainMenuCategories/ANAMarketplace/ANAPeriodicals/OJIN/TableofContents/Volume52000/No3Sept00/GeneticsServiceModels.aspx

Key words: genetic services, bioinformatics, genomics, genetics nursing practice, genetic health care

Introduction

All nurses could enhance the quality of their health care practices and improve patient outcomes by recognizing genetics as essential to a holistic view of personhood and a modern view of health care delivery.

Anderson, Monsen, Prows, Tinley and Jenkins, 2000, p. 24


This is an exciting time for the profession of nursing, the field of genetics and for all of health care. New genetic and biotechnology discoveries are causing major changes in each of these areas, and merging all three into an expanding array of health opportunities for patients, families and communities around the world. New genetic tools to diagnose, manage, and treat common diseases, along with Web-based innovations are changing the shape of how all health care care services, including genetic services, will be accessed and delivered. These advances represent a "bionic convergence" that will fundamentally transform medicine during the next few decades (Zajtchuk, 1999). The convergence of biotechnology and electronics has the potential to provide innovative opportunities for health promotion, restoration and management. Imagine being able to identify genetic disorders and

These advances represent a "bionic convergence" that will fundamentally transform medicine during the next few decades
predispositions using a gene chip, getting a genetic family risk assessment, prevention and treatment plan via the Internet, and meeting with genetic specialists through telemedicine!

Biotechnology and genetic discoveries are increasing opportunities for patients, families and communities to participate more fully in the direction and design of their own genetic health. Nurses with their long history of providing holistic, family-centered care in all practice settings, can help to create new dimensions to their practice to meet these challenges. Supporting patient empowerment, partnering with patients and families to guide them to meaningful health decisions, and becoming fluent in the management of genetic health information are just a few of the emerging nursing roles in the future delivery of genetics services. This article describes four new genetic technologies (gene chips, pharmacogenomics, gene therapy, information technology and telemedicine) that promise to revolutionize medicine and healthcare delivery as we know it today. Nursing participation in and preparation for futuristic genetics services are also described.

Background

Genetic services grew out of a need for professionals who could provide genetic information, education, and support to patients and families with current and

A Statement on the Scope and Standards of Genetics Clinical Nursing Practice...is now available to guide nurses in their practice of genetic health care.

future genetic health concerns. Trained genetic specialists in academic medical, public health and community-based settings have traditionally provided these services. Ineach location, genetics professionals - medical geneticists, genetic counselors, and genetics advanced practice nurses - provide specified genetics services via primary care providers to their patients. Working together as a team, genetic specialists obtain and interpret complex family history information, evaluate and diagnose genetic conditions, interpret and discuss complicated genetic test results, support patients throughout the genetic counseling process, and offer resources for additional professional and family support. The patient and family members participate as team members, and decision makers throughout the process. Genetic services have since evolved to encompass an evaluation and communication process by which individuals and families come to learn and understand relevant aspects of genetics, to make informed health decisions, and to receive support in integrating personal and family genetic information into their daily lives (Lea, Jenkins and Francomano, 1998). For more background on the history of genetic services the reader is referred to the article by Jenkins in this issue.

New genetic discoveries have made available an increasing number of genetic technologies for carrier, prenatal, diagnostic and presymptomatic testing for genetic conditions. These discoveries are creating changes in how genetic services are delivered, the most immediate being the integration of genetics into primary health care delivery. Nurses, for example, now identify patients and families in need of further genetic evaluation and counseling and refer them to appropriate genetic services. Nurses also participate in genetic counseling and support patients throughout the counseling process. They help to gather relevant family and medical history, collaborate with genetic specialists, coordinate genetic health care and identify relevant community and national support resources. A statement on the Scope and Standards of Genetics Clinical Nursing Practice, published by the American Nurses Association is now available to guide nurses in their practice of genetic health care. The Scope and Standards delineates roles and responsibilities for all nurses in providing genetic health care (International Society of Nurses in Genetics, Inc., 1998).

The revolution in biotechnology is creating a wide range of powerful new tools that are changing virtually everything that is important to genetic health care providers and patients. This means the use of diagnostic technologies, new methods for assessing the most appropriate treatments for patients based on the underlying cause of the genetic disease and the patient's genotype, and approaches to prevention. Implementation of new genetic tests and technologies is driving diversification of


The revolution in biotechnology is creating a wide range of powerful new tools...changing virtually everything important to genetic health care providers and patients.
genetic services. Currently, when new genetic tests become available, it is clinical geneticists, genetic counselors and genetics nurse specialists who are enlisted to assist in their implementation. In the future, genetic tests will become integrated into medical practice, and used directly by primary care providers and medical specialists to predict risk for common diseases (Biesecker and Marteau, 1999). This new direction in the provision of genetic services has major practice implications for all nurses regardless of their area of practice.

The computer revolution is creating new ways for patients to access genetic information, risk assessment, treatment options, and support. Patients are now able to directly access genetic information, including on-line genetic risk assessment profiles and genetic testing. All of these changes will impact the provision of genetic services, facility design, and medical and nursing education. The emerging picture is that of a wide range of new biotechnologies developed on the basis of modern genetics and the convergence of biology with electronics (Zajtchuk, 1999). These advances have the capacity to profoundly reshape the nature and delivery of genetic services during the next 10 to 20 years.

Gene Chips and Genetic Profiling: New Opportunities for Prevention

Genetic services are expanding as a result of genomics - the study of genes and how they affect the human body. The principles of genomics are being applied to medicine to improve disease diagnosis, treatment and prevention. Individual risk profiling is expected to be at the core of information-based clinical care. Identifying risk proactively opens up new opportunities that will be applied to management of care in the future. A discovery that offers great promise in this area is a new technology called gene chips. Gene chips - also called DNA chips - are constructed to monitor the

Individual risk profiling is expected to be at the core of information-based clinical care

entire genome on a single chip so that researchers can have a better picture of the interactions among thousands of genes simultaneously (Fisher, 1999). This kind of complex analysis will make it possible to distinguish normal gene patterns from the irregular ones that will be found to correlate with certain diseases. Gene chips are made by high-speed robotics, generally on glass, for which probes with known identity are used thus allowing gene discovery and expression studies. Gene chips also are designed for use as diagnostic devices. In the case of prostate cancer, for example, at least 500 genes have been found to transform when prostate cells turn cancerous. DNA chips can be designed to test for the presence of those alterations. This information offers the potential to design appropriate prevention and intervention priorities (Zajtchuk, 1999).

DNA chip technology has many other applications. Gene chips can easily be used to learn more about the association of polymorphisms (genetic changes within a population) with disease, understanding the mechanisms that lead to disease, and monitoring patient response to treatment. More detailed information about gene chip technology and applications can be found at the Genome Chip Web Site (www.Gene-Chips.com/).

Through targeted analysis, gene chip probes facilitate research into more cost-effective patient management for diseases such as cancer and AIDS. Researchers have already discovered single genes associated with a number of conditions including cystic fibrosis, myotonic dystrophy and Tay-Sachs disease. Within the next decade, it


Within the next decade, it may be possible to place a few cells on a gene chip scanner and quickly test for subsets of a variety of diseases.

may be possible to place a few cells on a gene chip scanner and quickly test for subsets of a variety of different diseases. Gene chips may make individual genetic profiling (genotyping) possible at a reasonable cost, thus allowing people to know if they are predisposed to developing certain diseases. Potential health problems can then be predicted on the basis of medical history and individual profiling. As an example, blood tests are available today that can reveal whether a person has gene mutations that increases his or her risk for colon or breast cancer. Tests for genetic predisposition to dozens of other diseases are currently being tested in research settings. Researchers speculate that these types of tests for specific diseases will become available during the next few years, and that genotyping will become an integral part of a person's medical records within the next 10 years (Collins, 1999).

Customized Care and Pharmacogenetics

Progress in genomics is leading to other changes in the nature and delivery of genetic services. Individual genotyping will radically alter the way new drugs are developed, used and marketed. This burgeoning field is called pharmacogenetics, a new area of

Pharmacogenetics refers to the study of how a patient's genes determine his or her response to a drug...
genetics that combines genomics with molecular pharmacology. Pharmacogenetics refers to the study of how a patient's genes determine his or her response to a drug; knowledge now being used to tailor therapeutics more effectively and improve results for patients on clinical trials. With greater knowledge of how different genotypes respond to different medications, drugs can become more customized and target those who are most likely to benefit from them. (Leming, 2000; Regaldo, 1999).

Testing could be performed, for example, to identify gene mutations in the cytochrome p450 gene, which codes for enzymes that play a major role in the regulation of the way a person's body metabolizes drugs. The ability to distinguish between patients who are fast and slow drug metabolizers would allow health care providers to more precisely determine appropriate drug doses. This same approach may be useful in the selection of nonpharmaceutical interventions. Today, many patients with hypertension are advised to follow a low-salt diet; however, this diet only helps a small percentage of patients. Myriad Genetics, Inc. is currently investigating a test for mutation of the AGT gene, which regulates salt retention. If patients with hypertension and AGT mutations are most helped by a salt-restricted diet, physicians will be able to use the AGT test to identify their patients who will actually benefit from this intervention. Information about the nature of drugs and drug-drug interactions can be refined by genotyping, which will be especially useful in the elderly population, whose members most often take multiple medications (Whitehouse, 1996).

A combination of scientific advances is speeding up the drug development process. Progress in genomics is making it possible to identify new human proteins for direct therapeutic use, a process that is providing access to novel proteins as targets of drug action. This is producing progress in the scale of the number of new "targets" that are available. Knowing a protein's structure will make it possible to custom design drugs to interact in specific ways with the protein target to alter functioning. Use of this method has led to the development of several of the new protease inhibitors that are proving effective against human immunodeficiency virus (HIV) (Haseltine, 1997).

Gene Therapy and Genetic Engineering

Gene Therapy

Gene therapy - transferring corrected or altered genes into a person's cells - is believed by many to constitute one of the next major medical advances. The current concept of gene therapy is based on the premise that definitive treatment for genetic disorders should be possible by treatment directed to the site of the defect itself - the gene mutation - rather than to the secondary effects and symptoms of the altered gene. Gene therapy represents a comprehensive array of therapeutic interventions. Although gene therapy is often considered a new therapeutic concept, the idea that genes can be used to treat human disease can be traced back several decades. The term gene therapy comes from the phrase genetic engineering. In 1932, at an international genetics conference, genetic engineering was defined as the application of genetic principles to animal and plant breeding to distinguish it from the perception of eugenics (Wolf & Lederberg, 1994). Gene therapy has since evolved as a therapeutic intervention within the context of pharmacologic and surgical traditions. New applications of gene therapy are based on advances in our understanding of the human genome within the last 10 years. Genetic engineering, as we know it today, is focused on research, development and use of biologic substitutes such as blood products, artificial organs, and tissue-engineered vascular grafts for human health and well-being (Zajtchuk, 1999).

Gene therapy is emerging as another revolutionary development in genetic medicine that has the potential to change the delivery of genetic services in the future. Until recently, it was not possible to correct the underlying malfunctions in protein production that can lead to the development of disease such as cancer.


The significance of gene therapy...is that it promises to deal with disease at the source and alter the genes involved to restore them to proper functioning.
The significance of gene therapy - treatment of disease at the level of the gene mutation itself - is that it promises to deal with disease at the source and alter the genes involved to restore them to proper functioning. Gene therapy trials for a variety of cancers and other genetic conditions such as cystic fibrosis are in progress. Reports of dramatic progress with gene therapy, however, have been followed by concerns of safety issues. Further development over the next 10 years will be necessary before gene therapies come into widespread use for a broad spectrum of diseases (American Society of Human Genetics, 2000).

Biotechnology and genomics discoveries are opening up a whole new field of immunotherapy developed on the basis of novel methods for fighting disease. These new methods enlist the cells of the body's own immune system rather than the traditional drugs. As an example, a gene called NIK has been discovered that helps remove a "molecular brake" that keeps the immune response in check. Scientists believe that this discovery will lead to the development of drugs that will regulate the immune systems response to a variety of diseases.

Drugs that enhance NIK's effects could be designed to lower immunity in autoimmune diseases such as rheumatoid arthritis, multiple sclerosis and juvenile rheumatoid arthritis (Zajtchuk, 1999).

Genetic Engineering

The health benefits from biotechnology discoveries extend into the realm of genetic engineering. Scientists predict that within the next decade, tissue engineering will grow from a research field to applications including blood products, artificial skin products, bioartificial organs, blood vessels, and cartilage. Blood product developments are examples of tissue engineering. The basic goal of tissue engineering is to create living tissue equivalents - biologic substitutes - which can be

The basic goal of tissue engineering is to create living tissue equivalents... which can be transplanted into the body.
transplanted into the body. Scientists who cloned Dolly have found a way to make cows and sheep that produce milk containing key proteins and antibodies of human plasma. When the animals lactate, the milk produced contains the key elements of human blood plasma including clotting factors and antibodies. Plasma can then be made from the proteins that are extracted from the milk. Thus animals may provide a means of making blood products for use in surgery and transfusions. Other applications of tissue engineering include artificial skin, bioartificial organs, and tissue-engineered vascular grafts. The Food and Drug Administration has not yet approved this technology, but clinical trials for artificial skin and cartilage may be approved during the next few years. Society is already accustomed to corrective and replacement parts (e.g. eyeglasses, hearing aids, hip replacements, prosthetic limbs). Scientists imagine there will be wide acceptance of bionic parts that increase opportunities for replacement, correction and enhancement (Zajtchuk, 1999).

Information Technology, Telemedicine and Patient Empowerment

Along with the advances in genomics, the ability to access genetic information and services using new computer-based technologies is changing the ways in which patients, families and communities access and receive medical and genetic services. The Internet, for example, allows primary care providers, other health care professionals including nurses, and patients to quickly access medical information in unprecedented amounts. Such access is transforming the patient-primary care provider relationship from that of the medical authority ministering advice and treatment to that of shared decision-making between the patient and their primary care provider (Winker, et al., 2000).

New developments in telecommunications are also changing the ways in which primary care providers and patients communicate with one another. Telemedicine, for example, is the application of telecommunications technology for clinical purposes to provide medical care such as patient exams or consultations. The essential feature is the use of electronic information and communication technologies to provide and support health care when distance separates participants (Institute of Medicine, 1996). Information and telecommunications technologies that constitute telemedicine have the potential to radically reshape health care. Teleradiology, for example, has been in operation for more than 20 years. The explosion in the number of telemedicine projects is largely due to major advances in telecommunications technology, which have made it possible to transfer large amounts of data quickly. Fetal telemedicine is now being used for prenatal diagnosis of birth defects such as congenital heart disease (Malone, et al., 1997). Genetics specialists in Georgia, a state with large rural population, for example, are using telemedicine for genetic evaluations and services. The telemedicine genetic services are provided through a live video program that uses an interactive communications device. "Telemedicine" provides such clear images that a physician can detect even minor anomalies of the hair, skin or bones, which point to an underlying genetic disorder. Thus far, both patients and providers have found satisfaction with this model of genetic service delivery as it reduces the cost of delivery of medical care to children with special health care needs by improving access to genetics services and by decreasing the time and cost incurred with transportation (Karp et al., 2000; Smith, 2000).

Patients and families can currently access genetic risk assessment and information services via many sites available on the Internet. One example is the GenRisk Program out of Cedars-Sinai Hospital. This electronic genetic health information service incorporates the newest genetic developments into patient care, and measures the effects of translating the new technology and information through a research registry. Information collected from patients includes the psychological and social impact this information may have on participants and their family members (GenRisk Program, 2000).

As more genetic information and services are made electronically available, some foresee the day when an educated consumer might take a CD-ROM containing his or her genetic profile, and combine it with a Web search through gene libraries to determine their predisposition to adverse drug reactions, or for Alzheimer's disease, colon cancer or other conditions that might eventually be treatable through gene therapy (Fisher, 1999). These revolutionary changes in the way patients access health information and health care are leading to a rising demand for patient empowerment; the increasing ability of patients to actively understand, participate in, and influence their health status (Bruegal, 1998).

Several factors are influencing the demands by patients for an increasing role, involvement, and say in their health care and health status, including genetics. Increasingly, more emphasis is being placed on chronic, as opposed to acute, disease as a result of the convergence of medical technologies and an aging population. As computers are able to provide more powerful breadth and depth of health information, patients are beginning to insist on complete, full and direct access to all medical record information. More extensive information systems are likely to develop, and this will mean the development of a new generation of health vocabulary systems that will enable patient information to be shared across systems and will permit patients to do increasingly sophisticated reviews on the record of their care. Celebration, the neo-traditional community currently being developed just south of Walt Disney World is serving as a model for future technical linkage between health facilities, patients and communities. Homes in Celebration are equipped with high-speed interactive links between homes, and local and worldwide health facilities and information resources. This level of information access and communication will provide another way in the future for patients and their families to access genetics services, resources and information (Zajtchuk, 1999).

Over time, it is predicted that patients will be exchanging e-mail with health care providers, reviewing and correcting their electronic patient record, and communicating with networks of other providers and other clients with similar health problems. This will change the dynamics of communications among patients, families, and providers, and require new ways of incorporating knowledge about care options. Core to the communication pathways will be self-help groups and other peer relationships. The Alliance of Genetic Support Groups represents one of the most well established of these groups. The Alliance recognizes the importance of peer support and accurate user-friendly information to individuals and families living with genetic conditions. It offers an on-line Directory of support organizations, as well as established support groups for conditions that have recently been discovered to have a genetic component (http://www.geneticalliance.org/).

Ethical, Legal, and Social Implications

The advances in both genetics and Internet technologies require that nurses in all levels of practice consider their responsibilities in handling genetic information, and the potential ethical, legal and social

Ethical issues that challenge nurses in the context of genetics include privacy, confidentiality, access to and justice in healthcare, and informed health decisions.
implications. Ethical issues that challenge nurses in the context of genetics include privacy, confidentiality, access to and justice in healthcare, and informed health decisions. Although these ethical issues are not new, their application to genetics clinical practice now and in the future present additional and unique ethical dimensions which require nursing attention (Grady, 1998). Ethical questions relating to genetics occur in various realms and in all levels of nursing practice. The decision to participate in any genetic intervention should be the client's autonomous decision, made on the basis of his or her consideration of the risks and benefits and of the individual's values and beliefs. Nurses will therefore need to assure that clients have the opportunity to give fully informed consent for genetic testing and treatments. Nurses will also be involved in assuring privacy and confidentiality of genetic information derived from such sources as family history assessments, genetic tests and other genetic interventions. Nurses managing genetic information must be aware of the potential for ethical issues related to individual privacy versus family need for genetic information. Equal access to genetic testing and treatment is another ethical concern for nurses.

The ability to recognize and respond to ethical concerns requires that nurses have an ethical framework. Principle-based ethics offers moral guidelines for nurses, which can be used to choose and to justify nursing practice. The emphasis is on principles such as beneficence (to do good) and non-maleficence (to do no harm) to help solve ethical dilemmas that may be involved in a clinical problem. Respect for persons is the ethical foundation that directs all of nursing care. Four ethical principles founded on respect for persons are generally accepted as being central guides to bioethical decision-making. These are: respect for autonomy, non-maleficence, beneficence, and justice (Beauchamp & Childress, 1994). Additional principles that support nurses when providing genetic-related health care are confidentiality, privacy and equity. These concepts offer guidance to nurses when engaged in ethical analyses of relevant questions related to genetic health care (American Nurses Association, 1989; Scanlon & Fibison, 1995).

Nursing Genetic Services Delivery: Preparing for the Future

How do nurses envision their participation in the emerging genetic service models? Future patterns of genetics services delivery will involve new linkages between patients and providers, therapeutics, and health care informatics. The effects of the bionic convergence are at first glance overwhelming. These changes present tremendous opportunities to do good, while at the same time, there is a need to be prepared to address the many potential dangers that are included as these technologies develop. The potential to forecast, treat and manage human disease is tremendous. Research in biotechnology is rapidly expanding our understanding of how life works and offers the ability to shape, and reshape, our own genetic destiny (Fisher, 1999). All health care providers including nurses need to understand this historically new situation, and be responsible for their own knowledge. Nurses are expected to use genetic information wisely to mitigate suffering and improve patients', families' and communities' quality of life (Anderson, et al., 2000). The future challenges of genetic services require that all nurses have a solid grasp of the potential ethical, legal and social issues; informed consent, privacy, and confidentiality of genetic information - involved with these new technologies, and take an active part in assuring their safe and ethical use.

The International Society of Nurses in Genetics, Inc. (ISONG) is a professional nursing society dedicated to the scientific, professional, and personal development of nurses in the management of genetic information. ISONG is developing an infrastructure to ensure that genetic education is disseminated and this knowledge is increasingly used by nurses in practice around the world (Anderson, et al., 2000; ISONG, http://nursing.creighton.edu/isong/).

Nurses should also become familiar with the Secretary's Advisory Committee on Genetic Testing (SACGT), a committee made up of health care providers and open to the public via the Internet. SACGT's mission is to develop guidelines for the safe and ethical use of genetic testing (www4od.nih.gov/oba/sacgt.html). For up-to-date information on the latest genetic discoveries, nurses can turn to the Human Genome Project WebPages (www.ornl.gov/hgmis/medicine/medicine.html). Information about the implications of this new information to the public is found in the Centers for Disease Control Genetics and Disease Prevention Update (www.cdc.gov/genetics.html).

Concerns for scientific validity of health information and ways to encourage shared decision making between patient and physician on the Internet have led the American Medical Association to develop principles that guide development and posting of Web site content. Their goal is to ensure visitor and patients' rights to privacy and confidentiality (Winker, et al., 2000). Additional information concerning the ethical standards for health information is found at the Web site for the e-Health Ethics Summit, a group of health professionals that has drafted an International E-Health Code of Ethics (www.ihealthcoalition.org/community/ethics.html)

The convergence of telecommunications and computing is already providing customized "in-home" information services. This capability will also provide a logical conduit for the delivery of personal health data and health compliance alerts to individuals and provide direct linkage from the home to the patient's own health care provider and health network (Poste, 1998). Nurses currently strengthen communication pathways among the family, the health care system, and community


Management of patients' genetic information with integrity, support of patient empowerment, and participation in shared decision-making with patients and their families will ensure quality care.
resources. They offer valuable support by virtue of their continuity of care with patients and families. (Lea, Anderson, and Monsen, 1998). This role is expected to expand to integrate the demands of diversified genetics service delivery. In the future, for example, a nurse may meet with an adolescent via telemedicine to review his/her gene chip profile; genotype. The young adult may have a mutation in the gene CYP1A1, which means that his metabolism converts substances in cigarette smoke into carcinogenic substances at significantly higher rate than normal. The nurse would explain to the adolescent that he is much more sensitive to cigarettes than most people and that smoking would dramatically increase his or her risk for lung cancer. The nurse could provide personalized information to the adolescent about his or her risk, an approach that may be far more effective in shaping his behavior. The nurse could also talk with the adolescent's parents about the importance of this possible predisposition for other family members so that they can make informed decisions to avoid cigarette smoking.

Having knowledge of the issues surrounding new biotechnology developments and their clinical applications will enable nurses to develop quality genetic services for the future. Management of patients' genetic information with integrity, support of patient empowerment, and participation in shared decision-making with patients and their families will ensure quality care. Keeping up to date with the "bionic convergence" also will support nurses to educate patients and families about new genetic treatments and interventions, and to advocate for the wise and safe use of genetic technologies. This will require ongoing genetics education and collaboration with other health professionals who are involved in delivering future genetic services.

The profession of nursing is responding to the call to increase genetics knowledge in all areas of nursing practice in preparation for current and future delivery of genetics services (Lea, 2000). Many new genetics educational and research resources and opportunities are becoming available to nurses to support the integration of genetics into their practice. The National Coalition for Health Professional Education in Genetics (NCHPEG) is one example. This interdisciplinary coalition is developing competencies in genetics essential for all health care professionals (NCHPEG, http://www.nchpeg.org/). Table 1 lists several other important genetics resources for all nurses. Taking advantage of these and other genetics continuing educational offerings, programs and materials is the responsibility of all nurses so that patients, families and communities will be assured of their continued competency and quality of care.

Summary

Diagnosis, management, and treatment of human disease are being revolutionized by new genetic discoveries and technologies. These new discoveries will have a direct impact on the ways in which genetic services are conceptualized, accessed, and delivered. Gene chip technology, for example, is creating opportunities for genetic profiling thus allowing people to know if they are predisposed to developing certain diseases and begin preventive measures. Pharmacogenomics is another developing field that is altering the way in which new drugs are developed and used. Iincreasing knowledge of how different genotypes respond to specific mediations is leading to the development of customized drugs that can target those who are most likely to benefit from them. Gene therapy offers hope for a variety of cancers and other genetic conditions such as cystic fibrosis, while genetic engineering promises to create new opportunities for organ and tissue replacement, correction and enhancement. These advances are paralleled by major advances in computer-based technologies, creating new and expanded ways in which patients, families and communities access genetic services. The convergence of biotechnology and electronics is creating an expanding array of health care opportunities for clients and communities and offers innovative opportunities for health promotion, restoration and management. Nurses and all other health care providers must become knowledgeable about the attendant ethical, legal and social implications of this new world of genetics services, and become familiar with available genetics education resources. Such knowledge and education will provide nurses with a framework with which to effectively respond to clients' genetic health needs as they arise.

Author

Dale Halsey Lea, MPH, RN
E-mail: dlea@fbr.org

Dale Halsey Lea is a genetics nurse specialist, Board Certified genetic counselor and Assistant Director of Southern Maine Regional Genetics Services Program at the Foundation for Blood Research. In addition to her administrative duties, Ms. Lea’s clinical responsibilities include providing direct genetic services to prenatal, pediatric and adult patients as well as services to the Prenatal and Cystic Fibrosis Programs at the Foundation for Blood Research. Ms. Lea received a BA in English from Wheaton College, Norton, MA and graduated Phi Beta Kappa in 1972. She received her BSN from Westbrook College, Portland, Maine (graduating with Highest Honors), and her Masters in Public Health with a focus in health education and health promotion from Loma Linda University, Loma Linda California. She is a member and past President, past Chair of the Education, Bylaws, Social Policy and Annual Education Committees of the International Society of Nurses in Genetics (ISONG). She is the current Chair of the Ethics and Social Policy Committee. She is also a member of the National Society of Genetic Counselors, the American Society of Human Genetics, and the Oncology Nursing Society. Ms. Lea received the New England Regional Genetics, Leadership Award for Genetic Counseling in 1997, and the ISONG Founders Award in 1999 in recognition of outstanding nursing and patient education in genetics. She currently serves as an advisory member to the Professional Practice and Guidelines Committee of the American College of Medical Genetics. Ms. Lea is widely published in the nursing and genetics literature in the area of integrating genetics into nursing practice, particularly with regard to creating interdisciplinary partnerships in the provision of genetic-related health care. She is the first author of the text Genetics in Clinical Practice: New Directions for Nursing and Health Care, published in collaboration with Jean Jenkins and Clair Francomano in 1998 by Jones & Bartlett Publishers, Inc. She has been involved in numerous education and research projects, and is currently the Principal Investigator for a three-year educational research grant "Practice-Based Genetics Curriculum for Nurse Educators," funded by the Ethical, Legal and Social Issues Branch of the National Human Genome Research Institute.

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Table 1 Genetics Resources for Nursing Education and Clinical Practice

Genetics Resource Organizations on the Web

  • Alliance of Genetic Support Groups www.geneticalliance.org/ -a nonprofit coalition of genetic support groups: includes list of genetic organizations

  • Centers for Disease Control - Office of Genetics and Disease Prevention www.cdc.gov/genetics.html offers information on the impact of genetics research on public health and disease prevention

  • Human Genome Project www.ornl.gov/hgmis/medicine/medicine.html - wealth of information about the Human Genome Project including ELSI (ethical, legal, and social issues); has a glossary and good information about genetics

  • International Society of Nurses in Genetics, Inc. (ISONG) www.nursing.creighton.edu/isong/ - a professional nursing society dedicated to the scientific, professional, and personal development of nurses in the management of genetic information.

  • National Coalition for Health Professional Education in Genetics www.nchpeg.org/offers up-to-date information on national genetics educational initiatives; promotes access and dissemination of genetics information to health care professionals

  • March of Dimes www.modimes.org/- provides educational programs for nurses in genetics, Fact Sheets on genetic conditions

  • Oncology Nurses Society www.ons.org/registration - has a Cancer Genetics SIG, newsletter, position statements on oncology nursing and genetics

    Books

  • Lashley, F.R (1998). Clinical Genetics in Nursing Practice, 2nd ed. New York, NY: Springer Publishing Co.

  • Lea, DH, Jenkins, J. & Francomano (1998)., Genetics in Clinical Practice: New Directions for Nursing and Health Care, Boston, MA: Jones & Bartlett.

    Standards of Practice

  • Scanlon, C. & Fibison, W. (1995) Managing Genetic Information: Implications for Nursing Practice. Washington, DC: American Nurses Publishing.

  • International Society of Nurses in Genetics, Inc. (1998) Statement on the Scope and Standards of Genetics Clinical Nursing Practice. Washington, DC: American Nurses Publishing.
    © 2000 Online Journal of Issues in Nursing
    Article published September 30, 2000

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