The genomic era, filled with the possibility of new discoveries and clinical testing strategies for seemingly incurable single-gene and complex trait diseases, has arrived. Many believe the availability of genetic testing and counseling for African Americans may hold the key to significantly improved care for diseases such as sickle cell (Gustafson et al. 2007), prostate cancer (Ahaghotu, Baffoe-Bonnie, Kittles, Pettaway, Powell, Royal, et al. 2004), and breast and ovarian cancer (Halbert et al. 2005). The challenge of these genomic times is to correct the racial disparities in health evident in the African American population and other groups (Communities of Color 2002; Dunston 2000) compared to the non-Hispanic Caucasian population. The magnitude of health disparities will continue to increase according to the U.S. Department of Health and Human Services (U.S. DHHS 2000). The Census Bureau reports that, by the year 2050, Hispanics and African Americans alone will comprise over one third of the total U.S. population, and non- Hispanics whites will have fallen to below 50% of the population for the first time since the nation’s founding (U.S. Census Bureau 1992).

One needs only to look at the prevalence of breast cancer among ethnic groups for an example of the potential benefits of genetic education, risk assessment, and counseling. In African American women across income strata, breast cancer is the second most common, surpassed only by lung cancer, according to the National Institutes of Health National Cancer Institute (NIH/NCI 2000). While the incidence of breast cancer is lower in African Americans—119 cases per 1000 versus 141 cases per 100 among non-Hispanic Caucasians (Ries et al. 2001)—breast cancer among African Americans is often estrogen receptor negative, is discovered at later stages (Laino 2007), and demonstrates greater mortality (ACS 2005). These disparities have been attributed to lack of access to care (Armstrong 2005; IOM 2002), lower use of genetic resources (Peters, Domcheck, Rose, et al. 2005), and differences in tumor biology (Laino 2007). These outcomes seem to suggest that genetic testing, education, and counseling would benefit this population. Nevertheless, barriers to the use of these services persist.

In exploring why many African American individuals and families may not use genetic services, the social-cultural dynamic that has created and sustained health disparities cannot be overlooked. Historical contributors to these health disparities include African ancestry, the impact of race, and the legacy of unethical medical experimentation, all of which have led to mistrust of the healthcare system among many African Americans. Despite the benefits of preventive genetic intervention and early treatment, the availability and willingness of African American clients to participate in testing and counseling still influence utilization of care. This chapter offers an overview of the major barriers between African Americans and new genetic technology, and strategies that may overcome them.

African Americans are an ethnic group with a unique heritage derived from a predominantly sub-Saharan African ancestry. The majority of African Americans are descendants of the more than eight million Africans captured on the West coast of Africa during the American slave trade of the seventeenth through the nineteenth centuries (Hines and Boyd-Franklin 1996; Locks and Boateng 1996). They were brought to the United States where they were sold for the purpose of forced labor. This African American definition does not include Caucasian Africans or those of African descent who entered the United States voluntarily from Africa, the Caribbean, or South America.

The taxonomic classification of the term African American has a connotation of historic and present-day racial stratification in American society. Historically, African Americans were categorized by race based upon physical characteristics. Commonly,
this group affiliation was determined by self-report, skin color, facial attributes, cranial profile, and hair texture (Fuchs et al. 2002). These characteristics have implied greater meaning than the observed phenotypical likeness. These differences, known as racial characteristics, have a greater social implication. The concept of race dates back to seventeenth-century colonial America. It originated as the rationale to justify hierarchical inequality of enslaved people such as those of African and Indian descent. Physical phenotypical traits became the grounds for socially exclusive status and inequality. Thus, race came to define cultural, behavioral, and physical characteristics. Persons of European descent were the superior race. Persons of African or Indian descent were associated with the negative qualities of an inferior race. These race beliefs were integrated institutionally and became embedded in the national belief systems. This was evident not only in U.S. society, but in Europe as well. Today the term used to describe U.S. citizens who are descendents of African slaves is African American. For a person who self-reports as an African American, this term has more than cultural or historical meaning. It connotes pride, kinship, and solidarity with an extended family network of others whose ancestors survived the Middle Passage and slavery in America (Hines and Boyd-Franklin 1996).

For many African American families, privacy is the most important ethical issue in genetics. African American concerns about confidentiality stem from a long and tortured battle with heredity-based, socially sanctioned tyranny. This legacy and ongoing struggle has led to a strong cultural suspicion of the motives of those collecting genetic information. Exacerbating this general unease is the contrast between how African Americans define family and the traditional family definition of mainstream American society.

Genetic counseling uses family history and pedigree as an important tool in the process of determining risk assessment. The usefulness of family history as a tool is predicated on gathering information about the proband’s parents, siblings, and other relatives who constitute their family. One might expect that both parents of the proband would also be able to provide health history information for their parents and siblings. Gathering this information about African American families often presents different challenges.

Key to the accurate collection of African American genetic information is an understanding of the family structure as broader and more diverse than that of the mainstream Euro-American family. Within the African American ethnic group, biological relatedness and legal marriage does not constrain the domain of kinship. In addition to consanguinity and legally sanctioned descendency, membership within an African
American family may be organized by family group consensus. For example, the family may decide to consider a close friend as a family member. Other family members reinforce this decision by treating the individual in ways indistinguishable from blood or legally related relatives. The person may assume the title of “cousin,” “auntie,” or “sister.” They may have the same privileges and responsibilities as any other member of the family. This is such a central tenet of African American family life that relatives often forget over time. Or the individual’s genetic relation to the family is not known. Matters of paternity, sibling status, or even maternity may be socially ascribed rather than fixed by genetic or legal criteria.

Another social dynamic often complicating African American genetic counseling is that African American culture allows greater flexibility in the roles of family members. The social norms and social scripts that determine the roles people should play in the family are more amenable to emotional and financial connections. For example, after the death or disappearance of a mother, an older sister may assume the role of mother and raise her younger siblings because she is an adult with a job. She may have a significant male friend who is a “father” figure and the family constellation changes accordingly.

The initiation of the African American family often begins with birth of a child. Census data reports that 62% of African American children are born into a matrilineal family organization where the mother is not married to the biological father (U.S. Census Bureau 2000). Therefore, while roles within the family are more flexible, the designation of family membership is an inviolable trust vital to the effective operation of the family. As one probes for pedigree relationships to determine risk, it is useful to inquire as to the biological lineage. However, taking time to explain the rationale for knowing biological connections to the client to assist in a clinical prediction sets the context of the questioning without devaluing the relationship of “family membership.” Instead of the more traditional question “Who lives in your household?”, one might ask “What are the names of blood relatives and your birth parents?”

For African Americans in the United States, health disparities can mean earlier death, decreased quality of life, loss of economic opportunities, and perceptions of injustice. For society, these disparities translate into reduced productivity, higher healthcare costs, and social inequity. Multiple factors contribute to racial and ethnic health disparities, including socioeconomic factors, lifestyle behaviors, social environment, racial and ethnic discrimination, neighborhood work conditions, and access to preventive healthcare services (Williams, Neighbors, and Jackson 2003).

The first attempt at an official definition of health disparities emerged in 1999 from a National Institutes of Health (NIH) working group. They defined health disparities as those differences in the incidence, prevalence, mortality, and burden of diseases and other adverse health conditions that exist among specific population groups in the United States (CRCHD 2008).

In 2000, U.S. Public Law 106-525, the Minority Health and Health Disparities Research and Education Act, provided a legal definition of health disparities: a significant disparity in the overall rate of disease incidence, prevalence, morbidity, mortality, or survival rates in the population compared to the health status of the general population. Since the passage of the law, public and private agencies have used different definitions for their own purposes, but these definitions tend to have several things in common. For example, the Office of Minority Health website provides a general definition of disparities as the differences between one population and another in “the overall rate of disease incidence, prevalence, morbidity, mortality or survival rates” (Office of Minority Health 2005).

The term health disparity is used almost exclusively in the United States, while health inequality and health equity are mainly found outside of the United States (Carter-Pokras and Banquet 2002). Even though there is continuing debate about the causes of health disparities, the three generally accepted causes are:

Other reasons in addition to the above are lack of diversity in the healthcare workforce and cultural differences.

The Henry J. Kaiser Family Foundation (KFF) reports that only 4% of physicians practicing in the United States are African American (KFF 1999). Important considerations regarding disparity between health caregiver, client culture, and ethnicity are potentials for miscommunication, patient dissatisfaction with the delivery of appropriate and effective care, and impact on access to health care (Cooper et al. 2003; Saha et al. 1999). Miscommunication can lead to incorrect diagnosis, improper medications, inaccurate pedigree, ineffective genetic counseling, and failure to follow up. Similarly, provider discrimination either unconsciously or
consciously can affect the quality of health care as documented by IOM (2002). This report documents that:

They conclude that minorities are less likely to be given appropriate cardiac medications, undergo bypass surgery, or receive kidney dialysis or transplants, and are more likely to receive certain less desirable procedures such as lower limb amputations for diabetes and other conditions. Although, the nation’s health has greatly improved in the past century, large gaps in health status for many still exist. Thus the burden of illness and death weighs heavier on racial minorities compared to the U.S. population as a whole. As a result, African Americans, Alaska Natives, American Indians, Asian Americans, Hispanic Americans, and Pacific Islanders are more likely than whites to have poor health, to be uninsured, and to die prematurely (U.S. DHHS 2001).

There are semantic differences among the terms health disparities, inequality, equity, and inequity. A formal definition of health inequality refers to a broad range of differences in both health experience and health status between regions or socioeconomic groups. Most inequalities are not biologically inevitable but reflect population differences in circumstances and behavior that are socially determined. Health inequalities can be defined as gaps in the quality of health and health care across racial, ethnic, and socioeconomic groups (U.S. DHHS 2001).

Equity is an ethical value and conveys a sense of fairness. Human rights activists Braverman and Gruskin (2003) define equity as:

Carter-Pokras and Banquet (2002) report that disagreements over which term should be used and whether a judgment is unavoidable or unfair continue and can affect programs and policies. Nonetheless, a basic ethical issue in genetics is equity or fairness for African American families and other minorities: equal access to genetic testing and genetic counseling and treatment. However, until affordable gene-engineered medical advances are developed and distributed equitably, genetics will be a specialty serving the “haves” rather than the “have nots” (Wertz and Fletcher 2004).

Historically, African Americans and other minorities have been the last to benefit from medical advances and innovations from the Human Genome Project (HGP). Even though the HGP provided some opportunities to reduce health disparities via targeted preventive programs and increased understanding of common polygenic and single-gene disorders, African Americans continue to be over-represented in deaths and under-represented in genetic testing, counseling, and clinical trials. The HGP formally began in 1990 as a 13-year effort coordinated by the Department of Energy (DOE) and the National Institutes of Health. Its goals (U.S. DOE 2004) were to:

The Ethical, Legal and Social Implications (ELSI) division of the National Human Genome Research Institute (NHGRI) at NIH is an innovative outgrowth of the HGP as it sought to educate professionals and the public through literature, conferences, workshops, and multimedia presentations. An array of programs were funded by DOE and ELSI; these consisted of educational materials for physicians, educators, students, clergy, judges, and other legal professionals (U.S. Department of Energy 2004).