Genetic Diagnosis of Cancer: Exercise 2

Consider the following history, and the associated pedigree #2.

Cancer has been a part of the lives of the Jones for many years.

The matriarch, Phylis, died of cancer of the womb at a relatively young age, leaving her husband Jack to care for their three boys. Jack died of a stroke at the age of 62, and within one year his oldest son Henry was diagnosed with inoperable bowel cancer. Henry was sickly for two years before he died, leaving a widow with a small boy and a three month old girl.

The middle brother Frank became increasingly involved in supporting his brother and his young family, earning a wage and helping out with the kids until Ruth got back on her feet. However, the tragic events were too much for his younger brother Donald, who ran off to Queensland to be a stockman. He travelled the countryside for a year, before abdominal pain lead to an emergency operation. During his recuperation, he realised that he had been given a second chance at life. So he put his illness, and his family, behind him. He courted and married the beautiful young Jessie, had two kids of his own, and became a prominent and successful local businessman.

Frank never really forgave Donald for running off, and because of this the brothers did not talk for over twenty years. So Frank and Ruth knew nothing of the Queensland branch of the family. It was only when Ruth’s daughter Louise actively sought out her uncle that the two arms of the family came in contact again. Even so, a deal of antipathy remained between the brothers on either side of the border.

Alice married into the family without knowing of their disease predisposition. She knew Stephen’s father died of bowel cancer, but no-one suspected that it was a family disease until six months earlier, when Stephen became unwell, and underwent surgery to remove a small cancer of the bowel.

Alice had read that new genetic tests could help them to find the cause, and had made a tentative approach to her local doctor, seeking more information on those tests. Most of all, she was concerned for the welfare of her son Jason. She was referred to a Family Cancer Clinic at St Elsewhere’s, and has been ringing around the family since, trying to get people to contact the clinic so she can find out how Jason will be affected.

You will be assigned to the role of Alice, Stephen, Louise, Don or Frank. Initially you will be briefed further on your personal details and some of the issues that may be relevant to you. You will then return to the bosom of your family, where you will seek more information, and consider the following questions;

• What will you tell Alice when she asks you to go to the clinic?
• If you do decide to go, what will you expect to get out of the visit?
• If you decide not to go, why not?
  

The plenary session will be a chance to consider your responses, and the issues raised.

After a long period of informed discussion regarding the value and problems of gene testing, the following conclusions were reached by the 1998 students:

All the Alices wanted Steven to have the test.

One of the seven Stevens opted not to have it, much to Alice's annoyance. Only half of the six Franks wanted the test. Three Dons wanted to be tested, and five did not. Two Louises opted for the test, three declined.

Pedigree for Exercise 2

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Last modified: 16/7/98