Genetic Counseling: Grief, Bereavement, and Prenatal Decisions

Introduction to Genetic Screening and Counseling

The acceptance of genetic screening and counseling among all communities is increasing, as is the accessibility of this form of prenatal care. It was once mostly available for common single-gene disorders associated with specific demographic groups, such as the prevalence of Down syndrome among the children of older mothers, or Tay-Sachs disease among Eastern European Jews. Genetic testing examines genetic markers or DNA patterns that can be traced within a family to identify individuals at risk for a disease, even when the exact gene causing that disease has not yet been identified in medical literature. "Genetic markers are primarily studied in the research setting" using population groups of families that have many affected members of a particular disorder, while genetic screening and counseling may have a wider scope, as its purpose is to help families make proactive decisions about a pregnancy — ranging from one that may produce a child with mild but treatable difficulties to one involving potentially fatal or life-threatening disorders (Beery & Schooner, 2004, p. 1).

Additionally, "clinicians in all specialties are confronted with patients who have an inherited susceptibility to diseases that were previously believed to be solely caused by environmental and sporadic factors," such as diabetes and heart disease. As the role of genetics in a potential child's future health becomes better understood, the need for counseling and support will grow correspondingly, helping parents make proactive and informed decisions that are right for their families (Beery & Schooner, 2004, p. 1). For example, "the prevalence of obesity and Type 2 diabetes in certain populations" is now attributed to a genotype common to hunter-gatherer populations that have not undergone much genetic intermingling, and was "selected for by frequent famines throughout those populations' prehistory." People who express the thrifty genotype are presumably predisposed to accumulate fat reserves in times of plenty for later use during famine. In today's environment of constant food availability, people with that once-useful genotype are prone to metabolic problems such as obesity and diabetes, which are common in groups such as Australian Aborigines, Native Americans, and Polynesians, and who may need to modify their diets for health reasons (Reebs, 2006). Although these disorders are treatable, other potentially debilitating genetic conditions are not. Regardless, the counselor must help the client understand how a child's disease will affect family life, the child's rate of survival, and the need for supportive counseling before and after any decision is made to terminate a pregnancy.

As genetic screening becomes more common, so will the need to support persons who are distressed by its results and revelations. Grief and bereavement counseling is a skill that any clinician involved in pregnancy must acquire to some degree — regardless of background — if that clinician is providing advice and information about interpreting and acting on a genetic screening. Although prenatal genetic testing through amniocentesis is often performed, high-level prenatal and genetic counseling is frequently lacking, "leaving women and their partners ill prepared for an unexpected finding" (Biesecker, 2001, p. 1). One common cultural trait shared across most demographic groups is the hope that nothing will be found to be wrong, and a reluctance to plan for the worst when expecting a new life.

Taking a Family History: Best Practices

For this reason, some couples may resist genetic screening — with or without counseling — particularly if their culture or belief system discourages or prohibits abortion. However, geneticists stress that family history is underused in preventive medicine and public health. Even a couple that says they will not consider abortion can benefit from the knowledge provided by prenatal testing and genetic screening, which can prepare them for changes in their future life expectations. When conducting a screen of the couple's genetic history, "optimally, a pedigree includes three generations of family members. Facts including medical conditions, ethnic backgrounds, spontaneous abortions, neonatal or childhood deaths, congenital malformations, and physical features" should all be documented (Beery & Schooner, 2004, p. 1).

It is important that the doctor "communicates empathy and understanding during this process, as disease often affects families in psychological as well as physical ways. The clinician should inquire about age of symptom onset — generally, the younger the onset of a condition, the more likely it is familial or genetic in etiology — and explore how diagnoses were made," as well as confirm how genetically suspect individuals are related to one another (Beery & Schooner, 2004, p. 1). "Questions asked in an unassuming manner can uncover full, half, step, adopted, and in-law relationships" (Beery & Schooner, 2004, p. 1).

A clinician should remember that a close blood relationship between two parents may increase the risk of transmitting a familial condition, and that some populations are more genetically homogeneous or permit marital relationships between closer blood relatives than the counselor may be accustomed to. "Instead of making assumptions, skilled family history takers always ask about consanguinity. Information in each of these areas is important in determining whether referral to a genetics specialist is warranted" for further consultation (Beery & Schooner, 2004, p. 1). Certain patients may also forget family conditions and relationships, and it is incumbent upon the medical practitioner to establish an atmosphere of openness and comfort. Talking with individuals separately may be necessary to solicit full candor. "Although PCPs will steadily become more comfortable recording family histories and educating families," as genetic screening becomes more common for couples, "referrals to genetics specialists remain necessary in certain instances — to help reduce unnecessary testing, provide accurate recurrence risk information, and because of their experience with genetic disease" and their greater ability to help families understand the prognosis of various disorders (Beery & Schooner, 2004, p. 2).

Making arrangements for clients who live in remote or inaccessible areas where travel is difficult even for routine prenatal care may be necessary. In the United States, genetic counseling is usually prescribed and covered by insurance through the currently accepted method of risk stratification, in which a person with high risk for a heritable disease on both sides of the family is referred for genetic counseling, or where the likelihood of a potential offspring possessing childhood or congenital diseases is elevated when two different organ systems are affected on one side of the family.

Delivering Difficult News and Supporting Decision-Making

Regardless of the couple's culture, beliefs, or economic circumstances, once the couple has received difficult news, the counselor's or doctor's job is far from over. "Women who receive a prenatal diagnosis of a chromosome abnormality" or a genetic disorder that could seriously affect the life of their unborn child — and therefore their own lives — often "remember the circumstances precisely" under which they were told (Biesecker, 2001, p. 1). Even years later, a woman may be able to recall "the exact words used to deliver the news, and many regret the manner in which they were told," believing it was insensitive (Biesecker, 2001, p. 1). The women recalled that they "read between the lines messages that their fetus was no longer worthy of life and that their feelings about the pregnancy were no longer important. A test result showing that a fetus has a chromosomal difference leaves women and their partners with a permanent and life-altering decision whether or not to continue the pregnancy," and many felt abandoned at this critical juncture of their lives (Biesecker, 2001, p. 1).

This sense of loss was reported by women regardless of their geographic location and access to professional psychological support. Although such a reaction may be natural, it highlights the importance of support and the need for discussion and follow-up care. Counselors must provide culturally and individually appropriate advice about what women and their significant others need in order to make a decision they can accept for the rest of their lives. Counselors must also strive to remain in contact with the woman during the decision-making process — ideally in person, or through phone contact if the woman's location necessitates it. A plan for the psychological care of the couple is just as necessary as a physical prescription to address the pregnancy, its complications, and the viability of carrying the child to term.

During the counseling process, the counselor must first have adequate knowledge about the diagnosed prenatal condition. One study examining how news is delivered to parents about a fetus found to have a sex chromosome abnormality on prenatal testing "showed that often little or inaccurate information was provided. They studied one of the most ambivalent categories of prenatal diagnosis: healthcare providers know little about sex chromosome abnormalities, the literature is often out of date and conflicting, and women and their partners less often choose to terminate pregnancies" when they have sufficient information about the extent to which the infant is affected (Biesecker, 2001, p. 2). "Accurate descriptions of sex chromosome differences are critical; the decisions are potentially regrettable, and the long-term outcomes devastating if a termination is based on misinformation" — for instance, "that any of these conditions is comparable to Down's Syndrome" (Biesecker, 2001, p. 2). Conversely, it is equally important not to minimize the odds of a potentially fatal genetic condition such as Tay-Sachs disease.

Providers are obliged to obtain useful, up-to-date information and to ensure that parents have an adequate opportunity to consider their decision with the help of an experienced healthcare provider — preferably one trained in medical genetics — and, if necessary, a counselor who is attuned to the cultural assumptions and needs of the couple's population group and religious beliefs. Certain populations may hold a different understanding of the real difficulty of raising a child with a heritable disorder, or of the concept of heritability of common disorders.

References

Baker, D., Schuette, J., & Uhlmann, W. (Eds.). (1998). A guide to genetic counseling.

Beery, T. A., & Schooner, K. A. (2004, November). Family history: The first genetic screen. Nurse Practitioner. Retrieved June 23, 2007, from http://findarticles.com/p/articles/mi_qa3958/is_200411/ai_n9469874/pg_5

Biesecker, B. (2001, February 24). Prenatal diagnoses of sex chromosome conditions: Parents need more than just accurate information. British Medical Journal. Retrieved June 23, 2007, from http://findarticles.com/p/articles/mi_m0999/is_7284_322/ai_71820689/pg_3

Murray, R. F. (1976). Psychosocial aspects of genetic counseling. Social Work in Health Care, 2(1), 13–23.

Reebs, S. (2006). Feast or famine. Natural History. Retrieved June 24, 2007, from http://findarticles.com/p/articles/mi_m1134/is_8_115/ai_n16807311

Rosenfeld, J. A. (1992, January). Emotional responses to therapeutic abortion. American Family Physician. Retrieved June 23, 2007, from http://findarticles.com/p/articles/mi_m3225/is_n1_v45/ai_11899635/pg_3