You are on page 1of 4

Cystic fibrosis and a finding of nonpaternity

At the age of 19 months, Jennifer C was diagnosed with cystic fibrosis, an autosomal
recessive genetic disease. The characteristics pattern is that a child inherits the CF gene
from both parents, each of whom is a carrier. Jennifer C’s parents, who have been
married about three years, are anxious to clarify their risk for having another child with
this disorder. They are referred to a genetic counselor, who arranges for DNA testing to
confirm their carrier status. The results from the laboratory indicate that Jennifer’s
mother is a carrier but her husband is not. In fact, DNA analysis shows clearly that he is
not the biological father of the child. The genetic counselor is unsure how to proceed.

Facts:

Patient: Jennifer C (19 month of age)


Relatives: Mr. & Mrs. C

Patient: diagnose with cystic fibrosis an autosomal recessive genetic diseases

Ethical dilemma:

1. Should the genetic counselor communicate the finding of non paternity to the
couple, perhaps jeopardizing their young marriage?

2. Should the genetic counselor first speak privately with the woman?

3. If the woman is willing to identify the biological father, should the genetic
counselor notify him that he is almost certainly a carrier of the CF gene?
Moral decision:

Justification:
We therefore conclude that the genetic counselor should talk first privately to the mother
about the non paternity of the father. Ask about the decision of the mother if it would be
right to tell it to the father because it is a right of a person to have a confidential
conversation with the counselor.

The genetic counselor should tell the biological father about being CF gene carrier to
avoid any conflict to his present partner.

Principles involve:

The principles,
Right of privacy because it is a conversation between a physician and a patient. Then the
theory of paternalism.

Justifications of truth telling:


it is argued that our human and moral quality as persons taken away from us if we are
denied whatever knowledge is available about our condition as patient.

Confidentiality:
Refers here to medical or professional secrecy in which certain information is
committed to a physician in an official capacity for the sake of medical assistance.
1. Definition of terms:

CFTR (cystic fibrosis transmembrane conductance regulator, ATP-binding cassette


(sub-family C, member 7)) is a human gene that provides instructions for making a
protein called the cystic fibrosis transmembrane conductance regulator. This protein
functions as an ion channel across the cell membrane
References:

• Cuppens H, Cassiman JJ (2004). "CFTR mutations and polymorphisms in male


infertility". Int J Androl 27 (5): 251–6. doi:10.1111/j.1365-2605.2004.00485.x.
PMID 15379964.
• Kulczycki LL, Kostuch M, Bellanti JA (2003). "A clinical perspective of cystic
fibrosis and new genetic findings: relationship of CFTR mutations to genotype-
phenotype manifestations". Am J Med Genet A 116 (3): 262–7.
doi:10.1002/ajmg.a.10886. PMID 12503104.
• Rowe SM, Miller S, Sorscher EJ (2005). "Cystic fibrosis". N Engl J Med 352
(19): 1992–2001. doi:10.1056/NEJMra043184. PMID 15888700.
• Vankeerberghen A, Cuppens H, Cassiman JJ (2002). "The cystic fibrosis
transmembrane conductance regulator: an intriguing protein with pleiotropic
functions". J Cyst Fibros 1 (1): 13–29. doi:10.1016/S1569-1993(01)00003-0.
PMID 15463806.

You might also like