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Family planning, PGT and the right not to know
Reproductive decision-making was another deeply personal part of the discussion.
Preimplantation genetic testing (PGT) can allow parents with a known familial variant to avoid passing ADPKD to a child, but access, funding and information vary greatly. The process can also be physically and emotionally demanding.
One mother shared that she was diagnosed at 12 and later had three children. Her first child inherited ADPKD; after receiving more complete information, she chose PGT for her two subsequent children. She was grateful for that possibility, but also described the complicated emotions created when one sibling is affected and the others are not. Her testimony showed why information must be offered before pregnancy, without directing families towards one “correct” reproductive choice.
Other participants spoke about guilt, fear and the burden parents may carry when they know their children have a 50% risk. One mother without a previous family history described the psychological impact of fearing that her children would become ill “because of her.” After counselling and therapy, the family chose not to test the children immediately, but to monitor their health, encourage healthy habits and allow them to participate in the decision as they mature.
The possibility of more complex genetic situations was also raised, including the rare chance that a family may carry more than one relevant disease-causing variant. Although uncommon, such cases can produce a much more severe presentation and may be important to discuss during specialist genetic and reproductive counselling.
The “right not to know” also extends into pregnancy. Modern ultrasound may identify kidney cysts in a fetus or child even when parents have chosen not to seek a diagnosis. Participants questioned how this should be handled and whether maternity professionals should discuss in advance what information parents do or do not wish to receive. The right to know and the right not to know both require informed choice.
Finally, the group emphasised intra-familial variability. Even within the same family, kidney failure may occur decades apart. A parent’s severe experience does not determine a child’s exact future. Counselling must communicate risk honestly without presenting one family member’s history as an unavoidable prediction.