Genetic testing to determine an individual’s likelihood of developing certain diseases is no longer a futuristic notion in health care. One need look no further than the Internet to find companies advertising genetic testing for various cancers--such as breast cancer, which has been linked to mutations in the BRCA1 and BRCA2 genes.
In terms of eliminating racial and ethnic disparities in health outcomes, the ability to predict a person’s genetic predisposition for developing diseases such as diabetes, coronary heart disease (CHD) and cancer--all of which disproportionately affect minority populations--holds great promise. Knowing that a patient is at a genetic risk for developing a particular disorder can enable health care providers to diagnose, treat and even cure them earlier and with better results--or even develop targeted interventions that can prevent the disease from occurring in the first place.
As research in genetics--the study of single gene disorders--forges ahead, the emphasis is gradually shifting to genomics, which recognizes that most health conditions involve multiple genes as well as other factors, such as the environment, that contribute to the “expression,” or triggering, of those genes. The huge scientific breakthrough resulting from the International Human Genome Project (HGP) is largely responsible for this shift. The HGP is an international, collaborative effort to map and sequence all of the genes that comprise human beings (known as our “genome”). More information about the HGP is available at the Web site www.genome.gov.
Entities involved in the HGP include the National Institutes of Health (NIH), which created the National Human Genome Research Institute (NHGRI) in 1989; the U.S. Department of Energy; numerous universities and research facilities throughout the United States; and international partners in the United Kingdom, France, Germany, Japan and China. As of 2001, the sequencing of the genome’s three billion base pairs of genes was approximately 90% complete; it is expected to be finished in 2003.
With this pool of knowledge about genetic risk factors for diseases filling rapidly, minority nurses can make important contributions at both the clinical and research ends. From a clinical perspective, nurses of color are uniquely qualified to educate minority patients about the health implications of this vast wealth of genetic information. On the research side, there is a huge need for more nurse scientists who can conduct genomics-based studies designed to close the gap of minority health disparities.
And to be effective patient advocates in this brave new genetic world, nurses in both disciplines must be well versed in the ethical, legal and social implications (ELSI) of genomics research and genetic testing. This includes such issues as protecting minority patients’ privacy so that research findings can’t be used to discriminate against them, and ensuring that genetic research is conducted in a culturally sensitive manner.
The role of nurses in providing patients with culturally and linguistically competent genetic education is vital because today’s increasingly multicultural society consists of populations with varying beliefs about health and disease. “I see minority nurses as a link between the different cultures and this emerging scientific knowledge. They can help people bridge this information gap,” says Dale Lea, RN, MPH, assistant director of the Foundation for Blood Research’s Southern Maine Genetics Services Program, which provides genetic evaluation and counseling services for individuals and families.
For example, patients may have definitions about family rooted in their culture, such as the belief in a single ancestor, that differ from the medical community’s definition of a genetic pedigree. “Those cultural beliefs can affect the way a nurse collects information regarding a family history and even how they approach the whole subject,” adds Lea, who served as the principal investigator for a three-year NIH/NHGRI grant to develop a Practice-Based Genetics Curriculum for Nurse Educators.
In 1985, while working at a spina bifida clinic in a predominantly Mexican-American community, Maricela Aguilar, RN, MSN, was trying to ensure that her young patients’ pregnant mothers had prenatal screening to determine if their unborn child was also at risk for this disabling birth defect. So she sent them to the county hospital for maternal serum alpha feto-protein tests.
But Aguilar, who today is a clinical assistant professor in research at the Department of Pediatrics of the University of Texas Health Science Center in San Antonio, soon learned that the mothers were not going in for the screening. They were convinced that the hospital would make them abort if the test was positive, which would be contrary to their religiously and spiritually based culture. Furthermore, they rarely returned to the clinic because they felt they would be badgered to get the test.
To eliminate this cultural barrier, Aguilar began approaching prenatal testing differently. She explained to the mothers that she realized they would accept the child that God sent them, even if it was not “perfect.” However, if they were screened, they could prepare appropriately if further testing suggested that the child would likely have spina bifida.
“For every minority group, we need to understand cultural values and beliefs in order to provide culturally sensitive [genetic education],” says Aguilar, who has conducted research on how cultural beliefs affect health care patterns. “If you understand a population and its belief systems, then you’re a much better provider and more trusted in the community.”
When it comes to informing the public about the benefits and risks of genetic testing, nurses who have personal knowledge and understanding of a minority community’s culture are better equipped to guide patients in their health care decision-making process--and even more importantly, to teach them healthier lifestyle patterns that can help them beat their genetic odds of developing a hereditary disease.
“As genetic health becomes more a part of the medical landscape, it’s the associate degree and baccalaureate degree nurses who will be teaching the public this type of basic information,” believes Sonia Cunningham, RN, MS, an African-American associate professor of nursing at the University of Texas at Brownsville. “We call it culturally appropriate behavior risk reduction and prevention.”
An important aspect of this genetics-based approach to preventive education is teaching patients about environmental or lifestyle factors that can serve as a trigger for a disease-linked gene, adds Cunningham, who works with a predominantly Mexican-American population. Although this ethnic group has a genetic predisposition for developing diabetes, she explains, the manifestation often occurs because it is triggered by their diet, which is high in carbohydrates and sugar. “If they eat a diet that is more suited for their genetic makeup, [it may help prevent the expression of that gene] and they may not develop Type 2 diabetes.”
The 2002 Annual Conference of the National Black Nurses Association showcased a particularly exciting example of the crucial role nurses of color can play in conducting genetic research that can make a difference in reducing minority health disparities. Two African-American nurse scientists, Ora L. Strickland, RN, PhD, FAAN, professor at the Nell Hodgson Woodruff School of Nursing at Emory University in Atlanta, and Joyce Newman Giger, RN, EdD, CS, FAAN, professor of graduate studies at the University of Alabama at Birmingham School of Nursing, presented the results of their groundbreaking study to determine genetic indicators and risk factors for CHD in pre-menopausal African-American women. (See “Translating Genetic Knowledge Into Targeted Treatments.”)
More minority nurses need to get involved in such research because they are more likely to place an emphasis on studying health problems that affect racial and ethnic minority populations, says Strickland. “Until we started looking at the high incidence of CHD in pre-menopausal African-American women, nobody was studying this,” she points out.
Giger agrees. “More minority nurses of all races need to participate in genetics and genomics research so that we can begin to answer questions about what causes disease in certain ethnic minority populations compared with other groups,” she maintains. “It’s the ‘what ifs’ that are important to understand so that we can render culturally and racially appropriate care.”
Strickland asserts that minority nurses can be more effective than their Caucasian counterparts in recruiting patients of color to participate in genetic research studies. Because they share these patients’ cultural heritage, and, in some cases, their language, they are able to explain the purpose of the research in a culturally and linguistically competent way and interpret the resulting data from a culturally knowledgeable perspective.
“The best way [for genetics researchers] to reach different ethnic and racial minority populations is with people who look like them, talk like them and understand them,” Giger adds. “I believe you can teach people [from outside that culture] those learned experiences or I wouldn’t be a transcultural nurse. But there’s nothing like living those experiences yourself.”
Providing an alternative to all-white research teams can also help break down barriers of distrust resulting from memories of such racist experiments of the past as the 1932-1972 Tuskegee Syphilis Study, in which African-American men were denied treatment for syphilis while being told they were being treated for a blood disorder, so that white researchers could study the progress of the disease.
“Nurses of color know how to access minority communities and help in developing trust so that the research can be done,” says Cynthia A. Prows, RN, MSN, a clinical nurse specialist in genetics at the Children’s Hospital Medical Center in Cincinnati. “Plus, their research questions will be based on a knowledge of that community, resulting in their being more direct.”
Giger believes that minority researchers add credibility to the research. “And it shows African Americans who are potential study participants that this kind of research is nothing to be afraid of,” she says.
While medical and nursing experts agree that the knowledge gained from the Human Genome Project will revolutionize health care as we know it, the troubling ELSI implications make this empowering knowledge a double-edged sword.
Genetic testing can have ramifications for the rest of an individual’s life, including potential discrimination, stigmatization, and alteration of family dynamics. Even though more than 40 states have enacted legislation and more than 30 states have adopted laws designed to prevent this from happening, the reality is that genetic information can be used to discriminate against people in employment, health and life insurance, military service, etc.
People known to carry a gene that increases their likelihood of developing cancer may get turned down for health insurance. In addition to denying coverage, insurers could require applicants to undergo genetic testing and/or charge higher rates to individuals based on their genetic makeup. Minority populations can become stigmatized, as in the case of the Ashkenazi Jewish community, which has a genetic predisposition for breast cancer. Family dynamics can change when one family member decides to determine his or her genetic predisposition for a disease even though a sibling or parent may not wish to have this information.
These potential dangers make it crucial for nurses of color to serve as genetic advocates for minority patients and their communities. First, they must advocate for equal access to genetic testing and treatment. This can include helping to eliminate cultural and linguistic barriers that can prevent minority individuals from participating in genetic research or from understanding what is happening during the process.
For example, asking questions of the doctor is considered a sign of disrespect in Mexican-American culture, explains Aguilar. Therefore, patients may nod their head in agreement, even though they do not fully understand all of the information being given.
Asking patients how well they understand English or whether they can read it can help eliminate language barriers. The solution may be as simple as providing the information in another language, or using visuals to explain the tests. With serious health disparities already occurring in racial and ethnic minority populations, the use of high-tech genetic testing could potentially widen the gap if it is being accessed only by Caucasians.
For minority nurse researchers, the advocacy role includes making sure that genetic testing in minority communities is conducted in a culturally sensitive and respectful way, such as involving community leaders and sharing the findings so that the community can benefit from them. In addition, they must ensure that study participants’ anonymity is maintained and that their colleagues are behaving ethically when evaluating genetic material.
Confidentiality is the number one ELSI issue surrounding genetic research, according to Giger. “Inevitably, people want you to reveal the names of individuals who might have the [genetic] markers for a disease,” she says, adding that she and Strickland deliberately structured the database for their CHD study in a way that made it virtually impossible to determine any of the women’s identities.
“We stripped off all the identifiers, and we can’t tell who is whom,” says Strickland. “When you’re doing this kind of research, you must protect the people.”
Minority nurses also need to get involved in policymaking to help set genetics research agendas that will include and benefit the nation’s communities of color. “If we don’t get involved, a disproportionately high number of [racial and ethnic minorities] will get left behind in the decision-making,” Giger warns.
Over the years, Aguilar has served on several NHGRI committees and has frequently found herself in Washington speaking on behalf of Mexican Americans about such issues as access to care, health disparities and the necessity of using a culturally sensitive approach when presenting the HGP. “As a representative of [my ethnic] minority group, I can bring up cultural concerns that researchers need to be take into account,” she says. “Ethically, we have a moral responsibility to not just identify people who are at genetic risk for developing a disease, but also to provide them with treatment.”
Genetic testing can have a profound impact on the health of individuals, families and even entire communities. Being able to identify persons who carry genetic “markers” that predispose them to developing serious diseases such as cancer, coronary heart disease (CHD), diabetes and Alzheimer’s disease offers great hope for improving health through preventive interventions, earlier diagnoses and even the development of medicines targeted to an individual patient’s unique genetic profile. In fact, it can serve as a powerful weapon in the battle to eliminate racial and ethnic disparities in health.
For example, African-American women ages 18 to 45 have a CHD death rate that is almost four times higher than that of their Caucasian counterparts. This disparity prompted a research team led by two African-American nurse scientists, Dr. Ora L. Strickland of Emory University and Dr. Joyce Newman Giger of the University of Alabama at Birmingham, to conduct a landmark study to determine whether there are genetic indicators and phenotypes (characteristics resulting from the interaction of genetic and environmental factors) that are associated with known CHD risk factors in this population of black women.
Speaking at a recent National Black Nurses Association Annual Conference, Giger explained that “CHD is multifactorial, which means that genes and environment work together to cause the disease. Reducing the risk factors associated with development of CHD in pre-menopausal African-American women--such as hypertension, obesity, high cholesterol and a sedentary lifestyle--is paramount.”
By providing black women who have been identified as having genetic indicators for CHD with preventive education and interventions, such as putting them on exercise, nutrition and stress reduction programs, nurses can reduce their risk factors in order to prevent the genetic triggering of the disease, says Giger. These risk reduction behaviors would not only improve the women’s quality of life in general, but may even prevent them from developing CHD altogether.
In addition, the insights gained from the International Human Genome Project (HGP) are already beginning to lead to the design of a new class of genetically targeted drugs for the treatment of CHD, cancer, asthma and other diseases that disproportionately affect racial and ethnic minorities. Because genetic testing can also identify persons who are at risk of responding adversely to a particular medication, it is ushering in a new era of customized treatments that can maximize effectiveness and minimize side effects, as determined by the individual patient’s genetic profile.
“The HGP revealed that all human beings, regardless of race and ethnicity, are [genetically] about 99% the same,” adds Giger. “But that 1% looms large when we’re talking about people [of color] dying in disproportionate numbers.”
Editor’s Note: In the Spring issue of Minority Nurse, the experts will discuss educational programs and resources that can help nurses and students prepare for a career in, or learn more about, the new genetics and genomics.