Genetic Counseling Term Paper

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Genetic Counseling: Dealing With Its Aftermath, Dealing With Grief

The acceptance of genetic screening and counseling amongst all communities is increasing, as is the accessibility of this form of prenatal treatment. It was once mostly available for common single-gene disorders that are common to a specific demographic group, such as the prevalence of Downs Syndrome amongst the progeny of older mothers, or Tay Sachs disease amongst 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 that causes the disease is currently unidentified 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 more wide scope, as its purpose is to help a family make proactive decisions about a pregnancy, from a pregnancy that may produce a child with mild, but treatable difficulties to children with potentially fatal or life-threatening disorders (Beery & Schooner 2004:1).Buy full Download Microsoft Word File paper
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Term Paper on Genetic Counseling Assignment

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, and the more the role of genetics is discovered to play in the future health of a potential child, the more the role of counseling and support will be necessary to help parents make proactive and intelligent decisions that are right for their families (Beery & Schooner 2004:1). 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," and people who express the thrifty genotype are presumably predisposed to accumulate reserves of fat in times of plenty, for later use in times of famine. In today's constant plenty -- so the theory goes -- people with that once-useful genotype are prone to such metabolic problems as obesity and diabetes, which are common in groups such as Australian Aborigines, Native Americans, and Polynesians" may have to modify their diets for reasons of health (Reebs 2006). Although these disorders are treatable, other potentially debilitating genetic conditions are not, and regardless, the counselor must provide aid to his or her client to understand how the child's disease will affect family life, its rate of survival, and the need for supportive counseling before and after a decision is made to terminate a pregnancy.

Thus as genetic screening becomes more common so will the need to deal with persons who are displeased with its results and revelations. Grief and bereavement counseling is a skill that any clinician that deals with pregnancy must acquire to some degree, regardless of his or her background, if he or she is providing advice and information about interpreting and making decisions about a genetic screening. Although prenatal genetic counseling and testing is through amniocentesis is often performed, prenatal and genetic counseling of a high level is often lacking "leaving women and their partners ill prepared for an unexpected finding" (Biesecker 2001:1). One common cultural trait that is shared across most demographic groups is the hope that nothing wrong will be found, and a reluctance to plan for the worst when expecting a new life.

For this reason, some couples may resist genetic screening, with or without counseling, particularly if their culture or belief structure discourages or prohibits abortion. However, geneticists stress that family history is underused in preventive medicine and public health, and even a couple that says they will not consider abortion an option can benefit from the knowledge of prenatal testing and genetic screening that will prepare them for changes in their future life expectations. When doing 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" (Beery & Schooner 2004:1).

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 the condition is familial or genetic in etiology) and explore how diagnoses were made," as well as confirm how the genetically suspect individuals are related to one another (Beery & Schooner 2004:1). "Questions asked in an unassuming manner can uncover full, half, step, adopted, and in-law relationships" (Beery & Schooner 2004:1).

A clinician should remember that a close blood relationship between two parents may increase the risk of transmitting a familial condition and that in some populations are more genetically homogeneous or allow martial relationships with closer blood kin than the patient's own counselor or health care provider. "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 2004:1). Remember that certain patients may forget family conditions and family relationships, and it is incumbent upon the inquiring medical practitioner to establish an atmosphere of openness and comfort. Talking with individuals alone and away from one another may be necessary to solicit full candor. "Although PCP [Personal Care Physicians]s 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 better ability to help families understand the prognosis of various disorders (Beery & Schooner 2004:2).

Making arrangements for clients that live in remote or inaccessible areas where travel is difficult even for routine prenatal care may be necessary, and hopefully in the future as genetic screening becomes more integrated into the healthcare system, preventative screening and counseling for genetic disorders with follow-up support will become part of the process. In the U.S., genetic counseling is usually prescribed and covered by insurance via the currently accepted method of risk stratification, where a person with high risk for a heritable disease or disease susceptibility on both sides of the family is referred for genetic counseling or the likelihood of a potential offspring possessing childhood or congenital diseases when two different organ systems are affected on one side of the family.

Regardless of the couple's culture, beliefs or economic circumstances, once the couple has received 'bad news,' the counselor or doctor's job hardly ends. "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 2001:1). Even years later the woman may be able to recall "the exact words used to deliver the news, and many regret the manner in which they were told," because they believe it was insensitive (Biesecker 2001:1) the women recall 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 2001:1).

This sense of loss was reported by women regardless of their geographic location and access to professional psychological support. Although such a reaction may only 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 to do make a decision that they can accept for the rest of their lives, and must strive to remain in contact with the woman during the decision-making process as a sounding board, ideally in person, or through phone contact, if the woman's geographic location necessitates it. A plan for the psychological treatment of the couple is just as necessary as a physical prescription to deal with the pregnancy, complications, and estimate the viability of carrying the child to term.

During the counseling process, first and foremost, the counselor must have adequate knowledge about the diagnosed prenatal condition to give advice. One study about the way that news is delivered to parents about a fetus discovered on prenatal testing to have a sex chromosome abnormality "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," if… [END OF PREVIEW] . . . READ MORE

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