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Physicians are accustomed to issuing therapeutic directives and, indeed, patients invariably depend on such instructions to improve their health status. Such directive approaches are not consistent with the overwhelming consensus of opinion that governs genetic counseling. Nondirective genetic counseling has been endorsed by medical geneticists,²⁶³ as well as by the World Health Organization Expert Committee on Genetic Counseling,²⁶⁴ and in a multinational study focused on the attitudes of genetic counselors.^{265, 266} In an analysis of nondirective genetic counseling, Kessler²⁶⁷ proffered this definition: “Nondirectiveness describes procedures aimed at promoting the autonomy and self‐directedness of the client.” The role of the physician and genetic counselor is to provide the most complete information available, remaining impartial and objective in this communication process while recognizing a tenet of medicine as being to prevent disease. This might not be an easy task. Indeed there are some who believe that nondirective counseling is neither possible nor desirable.^{268, 269} Not unexpectedly, significant differences in counseling techniques mirror the divergent views of counselors on the goals, content, and process of genetic counseling. Kessler²⁶⁷ believes that the difficulties counselors have with answering direct questions and being nondirective reveal a lack of skill and an incompetence, which he lays at the door of inadequate training. In calling for correction of the major inadequacies in counseling, training, and skill, he emphasized that nondirectiveness is an “active strategy” aimed at “evoking the client's competence and ability for self‐direction.” The expansion of genetic counseling training and degree programs has ameliorated many of these issues.

Michie et al.²⁷⁰ studied nondirectiveness in genetic counseling. They defined directiveness as advice and expressed views about or selective reinforcement of counselees' behavior, thoughts, or emotions. As expected, they concluded that genetic counseling as currently practiced was not characterized, either by counselors, counselees, or a standardized rating scale they used, as uniformly nondirective.

Clarke²⁷¹ remarkably argued that nondirective genetic counseling in the context of prenatal diagnosis is “inevitably a sham,” largely because of the “structure of the encounter between counselor and client.” He further contended “that an offer of prenatal diagnosis implies a recommendation to accept that offer, which in turn entails a tacit recommendation to terminate a pregnancy” if the fetus is abnormal. In 1970²⁷² it was emphasized that the offer of prenatal diagnosis was not associated with any explicit or implicit commitment to abort. Clarke²⁷¹ further opined that “nondirective counseling was unattainable, despite the counselor's motives, since the offer and acceptance of genetic counseling has already set up a likely chain of events in everyone's mind.” Experienced clinical geneticists were taken aback by his views,^273–275 and rightly so. He regarded reproductive choice as part of the “1980s consumerism model of clinical genetics.”²⁷⁶ The personal values of geneticists/counselors may influence behavior in clinical practice and individual vigilance is necessary to abide by the nondirective principle. This may be less challenging than imagined given the reported highly valued benevolence, self‐direction, and pattern of concern for the welfare of others.²⁷⁶ Clarke ignored a fundamental tenet of genetic counseling founded in a free society, where choice is not a fad but a right. His ideas suggest contempt for the views (and hence choices) of the public, maintaining that respect for the handicapped is not achievable in a society that “makes judgments about what types of people are worthy of life.”²⁷⁶ Others have reported that people's decision‐making processes are more rational than they might appear to be.²⁷⁷ Simms²⁷⁸ noted that, with hindsight, 80 percent of parents with handicapped children would have aborted their pregnancies. Later, in taking Clarke to task, she concluded that it was “his professional duty to advise parents to the best of his ability, not to make decisions for them. They will have to live with the consequences: he will not.”²⁷⁹

The intrinsic danger of using a directive approach is the opportunity (even subconscious or inadvertent) for the physician/counselor to insinuate his or her own religious, racial, eugenic, or other beliefs or dictates of conscience into the counseling that is offered.²⁸⁰ A breach of this principle, supported by some,²⁸¹ invites the provider to visit upon the patient unwarranted conscious or subliminal prejudices. Some obstetricians, for example, are known to have specifically not offered or referred patients for prenatal genetic studies because of their antiabortion views and have unconscionably exaggerated the specific risks of amniocentesis in order to discourage prenatal genetic studies. A Mexican study showed that physicians in specialties other than clinical genetics tend to counsel directively.²⁸²

The duty of the physician and genetic counselor is to communicate all the available information and then to assist a counselee to recognize his or her major priorities, beliefs, fears, and other concerns in order to make possible the counselee's rational decision making. To remain impartial is difficult and takes valuable time and conscious effort, but it is largely attainable. Time‐pressed nongeneticists providing genetic counseling may easily experience slippage between choice and coercion.^{283, 284} The difficulty lies mainly in trying to remain impartial while aiming to prevent the occurrence of genetic disease. Personality characteristics of the counselor may well influence the counseling provided.²⁸⁵ The optimistic counselor may unwittingly color the texture of counseling provided in contrast to the depressed counselor. Hsia²⁸⁶ validly observed that optimistic counselors may tell anxious individuals not to worry, whereas pessimistic ones might unwittingly exaggerate the significance of even small risks. The insinuation of the physician's prejudices into the decision‐making process of the counselee constitutes a moral affront to individual privacy and reproductive autonomy.²⁸⁷

In rare instances, family circumstances may challenge the need to adhere to personal autonomy and nondirective counseling. The right of one monozygous twin at 50 percent risk for Huntington disease not to know information after predictive testing should be respected. If there is possible harm to the co‐twin, Chapman suggested that testing should “be denied in the absence of mutual consent.”²⁸⁸ She further argued that in the interest of beneficence, directive counseling is acceptable for individuals at 50 percent risk of Huntington disease who suffer from depression, lack social support, and have a history of attempted suicide. For these patients, psychiatric evaluation and counseling, rather than predictive testing, have been recommended. In a 15‐year experience offering predictive counseling for Huntington disease, the Canadian authors emphasized the importance of preparation for receiving test results.²⁸⁹ In a study of counseling following prenatal diagnosis of Klinefelter syndrome, Marteau et al.²⁹⁰ found that pregnancy was almost two‐and‐a‐half times more likely to continue when counseling was provided by a geneticist.

Ever‐increasing genetic testing using microarrays and whole‐exome sequencing introduced the counseling challenge following determination of secondary findings. This issue of possible genomic uncertainty should be addressed prior to any sample being obtained. The American College of Medical Genetics and Genomics (ACMG) have a list of 59 actionable disorders which geneticists are directed to communicate because of potential health and life‐saving opportunities (see Chapter 14). Patients may opt out of this potential directive counseling, and clearly have the right not to know.²⁹¹ More difficult, however, are discoveries of variants of uncertain or unknown significance (VOUS) (see Chapter 14). Recognition, for example, in a newborn with epileptic encephalopathy, macrosomia, hypotonia, hypoglycemia, and dysmorphic facies of unknown compound heterozygous, instead of known homozygous mutations²⁹² in the HERC1 gene, would pose a serious challenge to remain nondirective regarding future recurrence risks and options. Further complicating nondirectiveness is the realization that pathogenic variants may occur in disease‐free individuals.²⁹³

Fortunately, it is very uncommon to have two parents with totally opposing views regarding the option of an abortion of an affected fetus. A counseling experience with a couple, both of whom were FBI agents, brought this issue into stark relief. The emotional exchange and the vested positions of the parties invited the “nondirective directive” to return home for their decision making while ensuring that they were in the possession of all necessary facts upon which rationality could trump.

Incidental detection by ultrasound, for example, of a hypoplastic thymus,²⁹⁴ following a maternal‐age indicated amniocentesis of a 22q11.2 deletion provides another quandary when one parent with a few signs is found to harbor the same microdeletion. Certainty about the future phenotype would be unwise,²⁹⁵ with the discussion about pregnancy termination requiring definitive nondirectiveness.