A Resource Guide for Learning About Genetics

  • Ann Maradiegue, PhD, MSN, CFNP
    Ann Maradiegue, PhD, MSN, CFNP

    Ann Maradiegue, PhD, MSN, CFNP completed the Summer Institutes in Genetics at the National Institutes of Health in 2004.  In 2005-2006 she completed the City of Hope Cancer Genetics training program in Duarte, California.  She has lectured extensively on a variety of genetic topics, held workshops for faculty, and conducted research on genetics in nursing education and nursing genetic knowledge.  Currently, Dr. Maradiegue is an Assistant Professor at George Mason University and is working with the Science Department to set up a genetic education program for doctoral and advanced practice nursing students.


The Human Genome Project is one of the most significant, health-related advances of modern times. Genetic research has already provided significant interventions for patients diagnosed with cancer and those receiving prenatal care. It has also enhanced the pharmacological interventions available today. Genetic testing is widely available and is now being marketed directly to consumers. In light of these discoveries nursing leaders have been calling for genetics to be incorporated into nursing education and practice. Yet few nurses are adequately prepared to teach other nurses how to do this. This article discusses the history of genetics in nursing and the need to integrate genetic concepts and practices into the nursing curriculum. It provides nurse educators in academic settings and healthcare agencies with the resources they need to teach genetics and shares with practicing nurses what they can do on their own to learn more about genetics and genomics in their specialty area.

Key words: genetics, genomics, genetic education, genetic nursing, genomic nursing, nurse education

The Human Genome Project (HGP) is one of the most significant, health-related advances of modern times. Genetic science has progressed rapidly since the inception of the HGP, which officially began in 1989. The impetus for this project was a 1987, United States (U.S.) Congressional advisory committee recommendation for a multidisciplinary, scientific, and technological endeavor to sequence the human genome. From the beginning of the HGP, scientists recognized the importance of genetic diversity and worked to have the project be an international, multidisciplinary project that included genes from an ethnically diverse population. The HGP began to receive federal funding in 1989, and by 1990 a 15-year project officially began to sequence the human genome (Lee, 1991). This project led to the rapid development of new genetic tests, raising concerns among ethical scholars and leading to a 1993 Institute of Medicine (IOM) report on genetic testing issues having the goal of establishing guidelines and requiring informed consent for all people receiving genetic testing (National Academy Press, 1993).

By 1999, as a result of the HGP, several genes had been sequenced and the Single Nucleotide Polymorphisms (SNPs) Consortium was established (Department of Energy, 2004). SNPs are used to identify small genetic differences in single gene disorders that could predispose people to disease or cause them to metabolize a drug differently from most other people. SNPs have been associated with diseases such as breast cancer, muscle disease, deafness, and blindness, and have allowed scientists to develop focused, genetic therapies for specific diseases.

Although the [Human Genome Project] has sequenced the human genome, this is just the beginning. Genetics is the study of a single gene, for example the cystic fibrosis gene, and its effects. Most of the diseases that have benefitted from the HGP project thus far are single gene disorders. However, the scientific and technologic discoveries of the HGP continue to advance and provide more information about complex diseases. Genomics is the study of multiple genes and their interactions with the environment, allowing the study of complex diseases (National Institutes of Health, 2007a). Table 1 presents a variety of genetic-related definitions adapted from the helpful website prepared by the U.S. government <www.genome.gov>.

Although the HGP has sequenced the human genome, this is just the beginning. Science has now moved into the genomic era, where recent advances in genetic research continue to reveal how genes interact with each other and the environment in ways that predispose individuals to common health conditions such as heart disease, arthritis, diabetes, and cancer. The number of human disease genes identified continues to multiply; and as a result new genetic projects, for example the international HapMap project, have been initiated. The HapMap project, involving a consortium of scientists from the countries of Canada, China, Japan, the United Kingdom, and the US, has as its purpose the study of complex diseases and disease variations around the world (National Institutes of Health, 2006). A range of genome studies have been initiated to continue to move the science forward. Because genes code for proteins, efforts are underway to study the structure and function of human proteins.  In addition, other therapies such as gene therapy and stem cell therapy represent the future in combating genetic disease (Palladino, 2006)

This article will provide an historical review of nursing's involvement with the HGP and discuss the challenges facing the nursing profession in terms of incorporating genetic and genomic care into nursing education and practice. It will also provide educators in academic settings and healthcare agencies with the resources they need to teach genetics, and share with practicing nurses what they can do on their own to learn more about genetics and genomics in their specialty areas. Included is information about the resources available, suggestions on how to use these resources, and a summary of the importance of genetics to nursing practice. The resources listed are suitable for a variety of practice settings and educational needs. Resources listed in Table 2 were created by Cindy Prows at the Cincinnati Children's Hospital; Tables 3, 4, 5, and 6 were created by the author.

Nursing and the Human Genome Project: An Historical Review

Historically, the need for nurses to have genetic information has been well-documented. Inadequate nursing knowledge of genetics was first documented in a nursing journal in 1979 (Cohen, 1979). Efforts to integrate genetics into nursing education began in the 1980s and accelerated in the mid-1990s, mirroring the progression of the HGP. Around the same time, the American Nursing Association (ANA) published a document summarizing a survey of nurses' knowledge and use of genetic information (Scanlon & Fibison, 1995).

Experts recognized early on the need for nurses to translate genetic information into understandable language for their patients. In 1994 and 1995 two conferences were held to review the status of genetics in primary healthcare and to address ways to incorporate genetics into medical and nursing education (Touchette, Holtzman, Davis, & Feetham, 1997). During this time, Dr. Francis Collins, Director of the HGP, recognized that all healthcare providers, including nurses and regardless of specialty, would need to integrate genetic knowledge into their routine practice (Collins, 1997).

In 2000, the Senior Clinical Advisor to the Director of the National Human Genome Research Institute, highlighted the relevance and importance of genetics to healthcare and described the implications of genetics for nursing education. The Clinical Advisor noted the need to add genetic content to the nursing curriculum and to make this information available to practicing nurses. Experts recognized early on the need for nurses to translate genetic information into understandable language for their patients. This would mean that all nurses would need to be familiar with genetic terminology and principles, along with genetic technology; even though the type of genetic knowledge might differ depending on the nurses' clinical focus and level of practice.

Today's Challenge: Incorporating Genetic and Genomic Discoveries into Nursing Education and Practice

As the scientific discoveries translate into practical applications, the National Human Genome Research Institute (NHGRI) continues to seek to educate healthcare professionals and the public about the role genetics plays in clinical care. The nursing literature has already included numerous articles calling for nurses to become more knowledgeable in genetics. Although many nurse leaders recognize the important place genetics has in healthcare, nursing as a profession has been slow to act on the scientific advances in the field of genetics. Recent studies conducted on both nursing students and faculty members show poor knowledge of genetic information (Edwards, Maradiegue, Seibert, Macri, & Sitzer, 2006; Maradiegue, Edwards, Seibert, & Macri, 2006). Experts have identified three primary barriers to implementing genetics into nursing education: (a) lack of adequate genetic knowledge by most nursing faculty; (b) limited numbers of administrators and nursing faculty who view genetic content as important; and (c) the perception that there is no room in the curriculum for any new content (Prows, Glass, Nicol, Skirton, & Williams; 2005).

Nursing leaders have moved to address this deficient knowledge base. Essential nursing competencies for genetics and genomics were established in 2005 by a unanimous consensus of 49 nursing organizations that represent a cross section of nurse leaders from clinical, research, and academic settings (Jenkins & Calzone, 2007). A revision of the Essentials in Baccalaureate Education in Nursing Education is currently in process and will include genetics and genomics as a required component of baccalaureate education (American Association of Colleges of Nursing, 2007).

Additionally, several new practice guidelines have recently recommended early identification and prevention of diseases that are hereditary. The American Society of Gynecological Oncologists and other women's health professionals have recommended early identification, treatment, and referral of women at risk for hereditary breast, ovarian, and colon cancer (American Society of Clinical Oncology, 2007). The American College of Obstetricians and Gynecologists (2007) has recommended that all parents considering a pregnancy receive preconception counseling for appropriate genetic testing prior to becoming pregnant so that they can make informed choices. The U.S. Preventive Services Task Force (USPSTF) (2007) has also developed a series of recommendations for patients with hereditary diseases to assist providers and patients in making appropriate healthcare decisions.

...the current generation of nurses...remains, to a large extent, unable to guide patients in acting upon the genetic information they have received. In September 2007, the U.S. Department of Health of Human Services outlined a long-term plan for personalized healthcare using information technology and genomic data to tailor patient treatment regimens based on an individuals' genetic profile (Health and Human Services, 2007). The HGP and the sequencing of the human genome have made genetic testing readily available to the public. Additionally, laboratories are marketing genetic testing that is directly available to the consumer (FDA, 2007). However, this availability has the potential to be problematic in that consumers may be given clinical findings which they are unable to interpret. Unfortunately the current generation of nurses, which knows little about the field of genetic and genomic healthcare, remains, to a large extent, unable to guide patients in acting upon the genetic information they have received.

Clearly, the expansion of human genetic information available to patients leads to new responsibilities for all practicing nurses and nurse educators (Jenkins, Prows, Dimond, Monsen, & Williams, 2001). Yet to date, few have assumed their professional responsibility of becoming knowledgeable in this area. Nurse researchers, too, have failed to add to our body of knowledge of the nursing role in genetic care (Williams, 1999). Although there are many genetic research opportunities for nurses, nurses have been conspicuously absent from genetic research (Williams, Tripp-Reimer, Schutte, & Barnette, 2004). This article will now describe resources that nurse educators and practicing nurses can use to strengthen nursing care related to genetic conditions.

Resources For Educators in Academic Programs

Keeping up with the scientific and technological advances in areas such as genetics and genomics will be essential if nurses are to remain valued members of the healthcare team in the 21st century. To meet this challenge nurse educators must begin now to incorporate genetic and genomic content into both undergraduate and graduate nursing programs (Berry & Hern, 2004; Lea & Thomas-Lawson, 2001; Prows, Glass, Nicol, Skirton, & Williams, 2005). Undergraduate nursing students need to be prepared to recognize disease patterns, collect family histories, understand genetics including pharmacogenetic principles, and be familiar with common genetic disorders and the ethical, legal, and social issues surrounding genetic testing. Graduate nursing students need to increase their depth of knowledge regarding the above topics and develop the beginning skills required to participate in genetic research (Jenkins et al., 2001).

Genetics content can be incorporated into a nursing curriculum, either as a stand-alone module(s) or course(s) or else by integrating the content into existing modules or courses. Either method is acceptable and dependent on the resources and teaching philosophy of the school. Cincinnati Children's Hospital has developed a series of 14 curriculum modules including case studies. Table 2 suggests ways in which these modules of genetic information can be integrated in a school's current nursing curriculum by outlining how specific genetic content areas can be integrated into specific courses (Cincinnati Children's, 2007). For example, the genetic content of history taking and pedigrees can be taught in nursing courses such as Clinical Core Didactic, Foundations of Nursing Health Assessment, and/or Nursing Practice. Health Assessment courses, where students learn to conduct physical assessments and gather the family history of their patient, provide an opportunity to learn how to collect a three-generation pedigree and recognize autosomal recessive, dominant, and X-linked diseases within the pedigree.

The web sites listed on Table 3 provide educational information which will assist faculty in teaching genetics. The Genetic Home Reference website provides information, including a downloadable handbook, to introduce undergraduate students to genetics. A public health video on the Genomics for Public Health website reviews chronic disease and environmental and genomic risk and is suitable for master's level community health course work. The Gene Reviews link, which is located on the Gene Test website, includes a program Genetic Tools: Through a Primary Care Lens. This program addresses inheritance patterns, genetic testing, family history, and public health implications.

Genetic Tools: Through a Primary Care Lens contains 41 genetic case studies organized by specialty (e.g. adult, pediatric and reproductive). These cases include a wide range of topics, including psychiatric illnesses. Each case contains learning objectives, counseling considerations, risk assessments, family history resources, and also a discussion of ethical, legal and social (ELSI) issues. The entire case can be used for master's students and significant portions can be used in teaching undergraduate students in various clinical rotations. The National Cancer Institute (NCI) website provides up-to-date screening information about genetic cancer risks, prevention, and cancer care that should be included in the educational process for every master's-prepared nurse. Doctoral students needing information to understand genomic research methods can access a series of videos on the National Institute of Health (NIH) website called Current Topics in Genome Analysis. The U.S. Surgeon General's Family History Initiative website provides a tool for students to use in learning to draw a pedigree as they learn to collect a three-generation pedigree with an appropriate legend on their own family. The American Medical Association History website provides detailed questionnaires that can be used with different age groups and offers important information for master's level students.

The Google search engine can also be used by educators to find helpful teaching tools for health assessment classes. The Google search engine can also be used by educators to find helpful teaching tools for health assessment classes. Pedigree images of autosomal recessive, dominant, or X-linked traits are readily accessible under images located at the top of the Google web browser by typing in the pedigree you are seeking, e.g. autosomal dominant pedigree, in the Google Search area. Images from Google can be used throughout the semester while discussing various systems. For example, when discussing the respiratory system and cystic fibrosis, which involves an autosomal recessive trait, Google can be used to illustrate what an autosomal recessive pedigree looks like.

Table 4 provides a list of continuing education (CE) courses educators can incorporate into the classroom. These courses can be included in distance education as part of the learning module or used as an extension of classroom activities. For example, the Cincinnati Children's website offers a series of self-paced modules that can be integrated into a pathophysiology course to familiarize the student with a genetic concept, such as meiosis. The pharmacogenomics module can be incorporated into the pharmacology classes. The Duke University website offers a course, Accessible Genetics Research Education. This site also contains videos and power points that can be accessed for class content. The March of Dimes website also offers modules on genetic testing and screening, family health and social history, and referral to genetic services that are suitable for obstetric courses at the undergraduate and master's level. I personally used the Family History module as an extra credit assignment as part of an undergraduate health assessment course. All 72 of the students completed the exercise and brought in the certificate of completion for verification to receive their grade. This site also has a list of birth defects and genetic conditions. The National Coalition of Health Professional Education in Genetics (NCHPEG) website has a module, Genetics in the Physician Assistant's Practice, appropriate for an advanced health assessment class for master's students as an out of class assignment. The genogram questions included at the end of the module can used as an exam to determine student understanding of the material. The site also has a genetic testing module suitable for master's level obstetric course work and case studies listed by system.

Resources for graduate students and faculty include the professional organizations listed on Table 5. Many of these organizations have funding available for doctoral students interested in conducting genetic research. These professional organizations offer support to assist faculty as they integrate genetics into nursing curriculum through educational offerings and mentorship.

Nursing students seeking master's and doctoral programs that focus on genetic education have the options available for them listed on Table 6. Post-graduate training programs for nurses are also listed in this table. More genetic training programs and courses are currently being developed in other institutions by faculty previously trained at the NIH Summer Genetics Institute (SGI) so that more educational programs will be available in the future. The SGI provides a unique opportunity for nursing faculty and doctoral students to attend a free, two-month, summer program to enhance their teaching and research in genetics. For doctoral students and faculty unable to spend the summer away, the Cincinnati Children's Hospital offers an 18-week, online module taught by instructors and guest lecturers with a focus on pediatric genetics.

Colleges and universities...have resources for their nursing students, namely the science faculty at their college. Colleges and universities also have resources for their nursing students, namely the science faculty at their college. Educators who teach in the biological sciences are rapidly integrating genetics into their courses. Hence more students are coming to their nursing course having gained some background in genetics from their basic science courses. These science faculty can be a valuable resource for nursing faculty, helping them to better understand genetics and translate this understanding into the healthcare setting.

In 2002, the Health Resources and Services Administration (HRSA) suggested that nursing programs should be interdisciplinary and focus on the translation of genetic information into practice and research (HRSA, 2002). An interdisciplinary nursing program would include at least one nursing faculty and one or more of the following disciplines teaching together to provide the best learning experience for the students: a science faculty with a background in genetics, a member of the school of pharmacy with a background in pharmacogenomics, environmental scientists who are interested in genetic disorders, public health experts with an interest in genetics, epidemiologists, statistical experts, genetic counselors, social workers with a background in caring for families and individuals with genetic disorders, and a medical geneticists. These partnerships with other disciplines will provide new opportunities to enhance the genetic component in a number of nursing courses. Similar interdisciplinary opportunities are available for nurse educators working for healthcare agencies as noted below.

Resources For Nurse Educators in Healthcare Agencies

Nurse educators in healthcare agency settings have the responsibility to facilitate learning and professional development, design appropriate learning experiences, and evaluate learning outcomes of nurses working in the agency (National League for Nursing, 2002). This section will identify resources valuable for the nurse educator working in an agency setting to help practicing nurses understand and incorporate genetics and genomics into their nursing care. One format available for using these resources is that of a series of brown-bag, journal-discussion lunches on topics of interest to the staff. Genetics and genomics is a rapidly evolving field  and journal articles are an excellent way to keep abreast of the related changes relevant to practice. The Journal of Nursing Scholarship had an expert oversight panel guide the publication of a series of genetic articles by nurses in 2005-2006. This series addressed common problems, such as the genetic risk for deep venous thrombosis. These articles can be accessed via the Genetics and Genomics in Nursing website listed on Table 3. Resources in this section will be organized into two categories, namely the online tools that are available and strategies to identify colleagues with expert knowledge who can assist in education programs.  

Using Online Resources

Online genetic resources listed in Table 3 are plentiful and provide diverse genetic information, such as explanations of genetic terminology listed on the National Human Genome Institute website. Gene Reviews, located through the Gene Test website, gives a summary of various disease entities including the clinical description, differential diagnosis, and counseling information. This site offers the opportunity for the nurse educator within the agency to deliver specific educational programs targeted to the needs of the staff in a variety of specialty areas. This website also has useful resources for hospital personnel, including links to educational, laboratory, and clinical content to which staff can refer patients with genetic disorders. The resource section of this website outlines approaches to clinical teaching of the patient in outpatient, inpatient, and bedside settings. The bedside teaching section lists important physical findings that you would expect to see with various disease entities and discusses issues of interest to patients recently diagnosed as having a genetic disease.

The CE programs listed in Table 4, which cover a wide variety of topics, can be made accessible to the staff or used as a resource for the nurse educator in the health agency. The Gene Test website that links to Gene Reviews listed in Table 3, gives detailed information for an in-house education program based on the specialty area of interest. Gene Tests has information on many disease entities, for example BRCA. BRCA is the acronym used for Breast Cancer Types 1 and 2, which are tumor suppressor genes. Mutations in these genes predispose individuals to breast, ovarian, and prostate cancer. A population at increased risk for carrying these gene mutations includes those of Ashkenazi Jewish ancestry (Online Mendelian Inheritance in Man, 2007). This topic would be useful for oncology nurses working in any agency. The March of Dimes web site listed in Table 4, has both an online program and a preconception checklist that can be used as a teaching point for obstetric nurses or as a screening tool for patients. Newborn screening information is located on both the March of Dimes website and the Region 4 web site, also located in Table 4. The March of Dimes site has a list called Birth Defects and Genetic Conditions along with links to organizations and support groups for families with children that have genetic conditions, all valuable tools for the nurse educator in an agency caring for obstetric and pediatric patients.

Professional organizations listed in Table 5 provide ongoing education in the field of genetics, with online tools that can be of use to practicing nurses. For example, the International Society of Nurses in Genetics (ISONG) website has a list of other nursing organizations working in the field of genetics, genetic nursing programs, and CE program information. The NCHPEG website provides access to genetic programs for providers in different roles, such as nurses and physician assistants. The program Genetics in the Physician Assistant's Practice, is available for any specialty on the NCHPEG website.

Drawing on Colleagues with Expertise in Genetics

In addition to the online strategies to teach genetics/genomics to practicing nurses, the healthcare agency nurse educator can use experts in the field to set up in-house education programs. Nurse educators working in agencies can partner with local universities to set up genetic education programs for nursing staff. Because local universities and colleges often educate the nurses who are staffing the local hospitals, medical centers, and health departments, collaborating on the development of genetic content can establish mutually beneficial relationships.

Hospitals and medical centers are often staffed with medical personnel who have excellent backgrounds in specific aspects of genetics. The nurse educator can partner with these personnel to set up genetic education sessions for staff, based on a particular practice specialty. Medical centers and community hospitals with genetic counselors in-house offer an additional resource for providing genetic content for nursing personnel. Institutions that do not have a genetic counselor can call upon the National Society of Genetic Counselors (Table 5) to help locate a counselor in their area. Genetic counselors tend to specialize in a particular area, for example pediatric genetics or cancer genetics, and can provide a wealth of information in their specialty area. The professional organizations listed in Table 5 often have a Speaker's Bureau that can be used to identify local experts who may be willing to do agency presentations.

Resources for Practicing Nurses

Nurses are core members of health teams and are expected to play a significant role in the care of patients with genetic disorders. In order to effectively carry out the nursing role, Jenkins, Grady, & Collins (2005) have identified the following activities the nurse must be able to perform:

  • identify hereditary and predisposing characteristics
  • identify patients and family members at highest disease risk
  • promote behaviors and surveillance that will reduce disease risk
  • guide patients and families in decisions regarding genetic testing and treatment
  • refer and/or prescribe appropriate disease management strategies
  • advocate for policy that promotes genetic healthcare

Today's consumers are able to access a considerable amount of genetics information on the Internet. Practicing nurses need to know and understand what their patients are reading on the Internet and guide them in understanding the implications of this information for their situations. The previously mentioned resources are available for practicing nurses as well as for nurse educators.

Practicing nurses need to know and understand what their patients are reading on the Internet...It is expected that practicing nurses will belong to a professional organization in their specialty area. These organizations can help members stay abreast of current information in their specialty area. Frequently professional organizations provide educational offerings related to genetics at their annual meetings. For example, the American Academy of Nurse Practitioners has offered a 'Family History Workshop' for the last two years and offers other genetic-based courses regularly. The Oncology Nursing Society has an active Genetic Special Interest Group and recently provided several offerings related to genetics and cancer.

Additionally, the International Society of Nurses in Genetics (ISONG), an organization initiated specifically to educate nurses in the science of genetics, offers both national and international meetings, which include pre-conference courses and research presentations related to genetics. The National Coalition of Health Professional Education in Genetics (NCHPEG), established in 1996 by the American Medical Association, the American Nursing Association, and the National Human Genome Research Institute to foster genetics in health professional education provides helpful resources and welcomes new members either as individuals or organizations.

Practicing nurses will find the translation of genetic and genomic research into practice playing an increasingly important role in patient care. Master's prepared nurses will be at particular disadvantage if they are not incorporating genetics into their clinical practice. The HGP continues to make available commercially more genetic tests that will play an important role in the diagnosis, monitoring, and treating disease. The demands on all primary care providers, including the master's prepared nurses, will increase dramatically as new genetic tests, and the interpretation of these test results, become routine in primary care (Suther & Goodson, 2003).


...if practicing nurses and nursing educators fail to take advantage of opportunities to embrace genetics as an important means of improving patient care, nurses will not be included in policy or monetary decisions... It is an exciting time to be a nurse with all of the scientific advances that are taking place. Nurses, who comprise the largest single profession in the healthcare industry, are responsible for patient safety, care, and education and have also established themselves as patient advocates. Yet if practicing nurses and nursing educators fail to take advantage of opportunities to embrace genetics as an important means of improving patient care, nurses will not be included in policy or monetary decisions related to advancing the healthcare of patients through genetic research. Worse, nurses will no longer be able to advocate for their patients or provide safe care.

This article has discussed the history of genetics in nursing and the need to integrate genetic and genomic concepts into nursing curriculum. It has provided nurse educators in academic settings and healthcare agencies with the resources they need to teach genetics and shared with practicing nurses what they can do to learn more about genetics in their specialty area. Now is the time for all nurses to advance with the rest of the healthcare team, embracing and using genetic and genomic discoveries as they enter a new era in healthcare.



TABLE 1: Genetic Definitions

Allele - An alternative form of a gene (one member of a pair) that is located at a specific position on a chromosome. Different alleles produce variation in inherited traits, for example hair color or blood type.

Autosome - Any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes and one pair of sex chromosomes.

Autosomal dominant - A pattern of Mendelian inheritance where the affected individual has one copy of a mutant allele. Each child in a family has a 50% chance of inheriting the trait.

Autosomal recessive -
A genetic disorder that appears only in patients who have received two copies of a mutant gene, one from each parent.

Chromosome - Threadlike packages of genes and other DNA in the cell nucleus that holds the genes. Chromosomes come in pairs.

Exon - The coding section of gene that produces a protein. A genes exons are separated by long non-coding regions of DNA known as introns.

Gene Expression - The process by which proteins are made from DNA. It is the translation of information encoded in a gene into RNA or protein.

Genome - All the DNA contained in an organism or a cell.

Genotype - The genetic identity of an individual that does not show as outward characteristics.

Haploid - The number of chromosomes in a sperm or egg cell, half the diploid number.

Homozygous - Having identical copies of the same gene, one inherited from each parent.

Intron - Sections of DNA in the non-coding region that is transcribed to an RNA strand, but is not part of the final RNA transcript. The coding sections are known as exons.

Karyotype - The term used to refer to a picture of an individuals’ chromosomes. The total number of chromosomes of an individual, including abnormalities.

Linkage - The association of genes and markers that lie near each other on a chromosome.

Mendelian Inheritance - Manner in which genes and traits are passed from parents to offspring. Examples of Mendelian inheritance include autosomal dominant, autosomal recessive and sex-linked genes.

Messenger RNA (mRNA) - Template for protein synthesis. The sequence of a strand of mRNA is based on the sequence of a complementary strand of DNA. The codon sequence in the mRNA specifies the protein that will be made.

Mitochondrial DNA - The genetic material of the mitochondria. Although most DNA is packaged in chromosomes within the nucleus, mitochondria have small amounts of their own DNA.

Mutation - A permanent structural alteration in the DNA. In most cases, changes in the DNA have no effect or cause no harm. Occasionally, a mutation can benefit the survival of the organism.

Nucleotide - One of the structural components or building blocks of DNA and RNA. A nucleotide consists of a base, one of four chemicals (adenine, thymine, guanine, and cytosine) plus a molecule of sugar and one of phosphoric acid.

Oncogene - A gene that is capable of transforming normal cells into cancer cells.

Pedigree - A diagram of a family’s genealogy that shows family members’ relationships to each other and how a particular disease or trait has been inherited.

Phenotype - The observable traits or characteristics of an organism, for example hair and eye color, presence or absence of disease. Phenotypic traits are not necessarily genetic and can be influenced by other entities, for example the environment.

Sex Linked - Located on the X-chromosome. Sex linked or X-linked diseases are generally only seen in males.

* This table is adapted from the website: www.genome.gov/glossary.cfm


TABLE 2: Cincinnati Children’s Genetic Nursing Curriculum Module


Types of Nursing Courses

Human Genome Project, Genetics and Genomics Related Research

  • Foundations of Nursing Practice
  • Nursing Research
  • Professional Issues

Basic Concepts and Patterns of Inheritance Review

  • Pathophysiology
  • Clinical Core Didactic Courses
  • Nursing Health Assessment

Influences on Gene Expression

  • Pathophysiology
  • Clinical Core Didactic
  • Nursing Health Assessment

DNA replication, Transcription and mRNA translation

  • Pathophysiology

Genetic Basis of Cancer

  • Pathophysiology
  • Clinical Core Didactic Courses

Introduction to Genetic Variation

  • Pathophysiology
  • Clinical Core Didactic Courses
  • Pharmacology

History Taking and Pedigrees

  • Clinical Core Didactic Courses
  • Nursing Health Assessment
  • Foundations of Nursing Practice

Genetic Testing Part 1

  • Clinical Core Didactic Courses
  • Pharmacology

Genetic Testing Part 2

  • Clinical Core Didactic Courses
  • Pharmacology

Genetic Therapeutics

  • Pharmacology
  • Clinical Core Didactic Courses

Resources for Patients and Families

  • Clinical Core Didactic Courses
  • Foundations of Nursing Practice
  • Professional Issues

Ethical, Legal and Social Implications

  • Nursing Ethics
  • Professional Issues
  • Clinical Core Didactic Courses

Ethnic, Racial and Cultural Considerations for Providing Genetic Services

  • Clinical Core Didactic Courses
  • Nursing Health Assessment
  • Foundations of Nursing Practice
  • Professional Issues
  • Transcultural Nursing

Nursing roles in Genetics Health Care

  • Clinical Core Didactic Courses
  • Foundations of Nursing Practice
  • Professional Issues

* Reprinted with Permission of Cindy Prowse, can be accessed on the Web at:


TABLE 3: Online Genetic Resources

Online Resources

American Academy of Family Physicians
Series of videos on a variety of health topics.

American Medical Association
Detailed Family history information.

Department of Energy (DOE) genome
Information on Human Genome Project with links to resources.

Department of Health and Human Services
Personalized Medicine
Detailed information and resources

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics

Approved genetic curricula

Genetic Alliance
Coalition of advocacy organizations.

Genetics and Genomics in Nursing
Series of genetic articles.

Genetic Home Reference
Comprehensive guide to genetic information.

Genomics for Public Health
Genetic information with video that discusses the most common diseases, environmental risk factors and interventions.

Gene Tests
Publications, a laboratory and clinic directory for information on genetic testing and education.

International HapMap Project
Advanced database with information on association studies.

National Cancer Institute-Health Professionals-Genetics
Up-to-date cancer information.

National Human Genome Institute
Information on genetic research, funding, glossary of genetic information in English and Spanish.
Within this site are educational activities, slides, movies available for public use.

National Institutes of Health
Video series examining current laboratory methods of genome analysis

National Newborn Screening Resource Center
Lists newborn conditions according to state.

National Office of Public Health Genomics
Information on the impact of human genetic research on public health and disease prevention.

HuGE Net
Housed within the Public Health website, gives information on epidemiological aspects of human genes.

National Organization of Rare Diseases
Provides information and free booklets on rare diseases.

Online Mendelian Inheritance in Man (OMIM)
Catalogue of genes and genetic disorders.

University of Kansas
Genetics Information Center with important links for health professionals.

University of Utah
Three part series: Genetic Reference Series for basic concepts, Genome Science Series personalized medicine Genetics of Health Series genetic disorders.

U.S. Surgeon General's Family History Initiative
Information and template to collect a family history.


TABLE 4: CEU Online Courses Available for Nurses

Educational Offering

Cincinnati Children’s Hospital Medical Center
Online Course Series

Duke University School of Medicine
CME ethics series

March of Dimes
CME modules

National Coalition of Health Professional Education in Genetics (NCHPEG)
Genetics modules according to practice discipline.

Region 4 Genetic Collaborative
Online course for health providers working with expectant parents and newborns.
Within the same site information on pediatric genetic disorders


TABLE 5: Professional Nursing Organizations

Educational Offering

International Society of Nurses in Genetics (ISONG)

List of Genetic Societies

List of Specialty Nursing Organizations

National Coalition of Health Professional Education in Genetics (NCHPEG)

National Society of Genetic Counselors (NSGC)

Oncology Nursing Society


TABLE 6: Genetic Education Programs Nurses

Educational Offering

Cincinnati Children’s Hospital Medical Center
18-week Online Course
5-week online course

City of Hope
Post-doc, 2-year training (clinical, research) and APN, 1year-long training in cancer genetics

Columbia University
Clinical Genetic Focus for APNs

NIH Summer Genetic Institute
Two-month intensive Course, PhD

University of Iowa
RN, MSN, PhD, Post-Doc

University of Pittsburg
Certificate, APN, Post-doc

University of San Francisco School of Nursing
Offers minor in Genomics at the Master’s level

University of Washington



Ann Maradiegue, PhD, MSN, CFNP
E-mail: amaradie@gmu.edu

Ann Maradiegue, PhD, MSN, CFNP completed the Summer Institutes in Genetics at the National Institutes of Health in 2004.  In 2005-2006 she completed the City of Hope Cancer Genetics training program in Duarte, California.  She has lectured extensively on a variety of genetic topics, held workshops for faculty, and conducted research on genetics in nursing education and nursing genetic knowledge.  Currently, Dr. Maradiegue is an Assistant Professor at George Mason University and is working with the Science Department to set up a genetic education program for doctoral and advanced practice nursing students.

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© 2008 OJIN: The Online Journal of Issues in Nursing
Article published January 31, 2008


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Citation: Maradiegue, A.,  (January 31, 2008) "A Resource Guide for Learning About Genetic" OJIN: The Online Journal of Issues in Nursing. Vol. 13 No. 1 Manuscript 6.