Sickle Cell Disease: Ethical Dilemmas and Considerations

1. Ethical Dilemma and Mitigation Plan:

Dilemma: Predictive genetic testing for Sickle Cell Disease (SCD) can be performed before pregnancy. This raises the ethical issue of potential eugenic pressures on couples, particularly those with a high risk of having a child with SCD.

Mitigation Plan:

• Genetic counseling should be mandatory before testing. Counselors should discuss the emotional impact of a positive test, the spectrum of SCD severity, and the availability of prenatal and postnatal care.
• Focus on carrier identification: Testing can empower couples to make informed reproductive decisions, such as considering in vitro fertilization with preimplantation genetic diagnosis (PGD) to select an embryo free of SCD.
• Promote public education: Increase awareness about SCD, emphasizing the range of severity and the positive aspects of living with the disease.

2. Legal Protections and Privacy Issues:

• Genetic Information Non-Discrimination Act (GINA): Protects individuals from discrimination based on genetic information in health insurance and employment.
• Family members’ privacy: Test results should only be disclosed to the patient unless explicit consent is given.
• Balancing disclosure with potential benefit: If a family member has a high risk of SCD due to a close relative’s diagnosis, disclosure could encourage them to get tested, potentially impacting their health decisions. Genetic counselors can help navigate these situations.

3. Duty to Warn and Permissions:

Duty to Warn: A DNP’s duty to warn extends to situations where there is a foreseeable serious risk of harm to a third party. In SCD, this might apply if a pregnant woman tests positive for SCD and the father is unaware of his carrier status, potentially leading to a child with a severe form of the disease.

Permissions:

• The pregnant woman’s written consent is required to disclose information to the father.
• If the woman is unable or unwilling to disclose, anonymized information about the potential risk to the fetus could be provided to the father, encouraging him to seek genetic counseling.

4. Genetic Counseling Plan:

For the Patient:

• Explain SCD inheritance patterns and the spectrum of disease severity.
• Discuss prenatal testing options and the possibility of PGD.
• Address emotional concerns and provide support resources.

For the Family:

• If appropriate, explain the genetic risk to siblings and other family members.
• Encourage at-risk family members to get tested for carrier status.
• Provide information about SCD research and potential future treatments.

By following these strategies, DNPs can help patients and families navigate the complexities of SCD, make informed decisions, and access appropriate care.