Summary: Case Preparatory Work
Current genetic counseling job tasks were determined by the American Board of Genetic Counseling as the outcome of a Genetic Counseling Practice Analysis (Hampel et al., 2009). The following lists the Case Preparatory Work tasks:
1. Evaluate referral information to determine:
- appropriateness
- urgency
- need for consultation with other experts (e.g., cardiologist, dermatologist, etc.)
- need to obtain additional information
- need to include relevant family members in the evaluation
- need to include certified interpreters
2. Review medical records
3. Review of literature and other resources
4. Develop preliminary risk assessment and/or differential diagnosis
5. Confirm eligibility and availability of genetic testing and/or research studies
6. Arrange preliminary diagnostic tests
Genetic counseling referrals come from a variety of sources, often from health care providers and self-referrals, and less commonly from community service providers such as social workers. The stated reason for referral is that Mary’s mother is concerned about the baby being born with developmental disabilities. We don’t know about other factors that may have precipitated this referral. Does the mother believe Mary’s intellectual disabilities are genetic? Does the social worker have concerns that the mother would pressure Mary into having an abortion? Is the mother concerned that Mary is incapable of parenting? Have there been fetal exposures? Are there worries about Mary being the victim of incest or sexual abuse? Are there other family members with intellectual disabilities?
We can only consider that these or other thoughts and questions might have motivated the social worker to refer Mary. We also wonder if the social worker discussed the process of genetic counseling with Mary and her mother so they would know what to expect from the appointment. Given the challenges faced by individuals with intellectual disabilities in accessing appropriate health care, the genetic counselor may or may not have the opportunity to review medical records with useful information about Mary’s intellectual disabilities, whether she has had any genetic testing, etc.
The genetic counselor will automatically be prepared to be on the lookout for any red flags that could provide insight into the cause of Mary’s intellectual disabilities, such as dysmorphic features, birth defects, chronic health problems, etc. However, the risk assessment and differential diagnostic approaches do not appear to be a top priority in this case. Tracey will also need to explore issues of informed consent and patient autonomy, especially when the discussion moves into the risks and benefits of prenatal testing. From a legal standpoint, we don’t know how much autonomy Mary has to make her own health care decisions.
Because we know so little about Mary, one of the most important
approaches to case preparatory work in this case is for Tracey to
initiate a conversation with the social worker prior to the appointment.
At this time, Tracey should gain a better understanding of Mary’s past
medical and psychosocial history, the relationship between Mary and her
mother, other family members and support persons, living arrangements,
communication patterns. The culturally competent genetic counselor will
not stop there, however. Tracey should also give the client a chance to
speak for herself and express her interests and desires. Mary’s mild
intellectual disabilities are not contraindications for holding these
discussions. Lastly, it is important to allow Mary’s mother to weigh in
about her perspectives on these issues. It is appropriate for Tracey to
consider the words and images she will use when counseling the client.
She will want to
keep the messages short and to the point and focused on
addressing Mary’s questions and aligned with her expressed agenda.
Tracey will want to use a variety of learning strategies, and ask Mary
and her mother for their feedback.
