Genetic Counselling Report

For this task, you are a genetic counsellor working with a couple planning to start a family. Genetic
counsellors help people make informed decisions about genetic testing, interpret test results and
communicate the implications of the result, for the individual and their family members. 1

You will need to choose one of the 3 case studies, and write a report for “your patients” including:

● An explanation of the genetic disease - remember you want your patients to be as informed as
possible, and they may not have your level of expertise!
● Details of the condition and its inheritance - your patient needs to be able to understand the
possible risks to their future child and the likelihood of their child inheriting a disease.
● An outline of your recommendations for the couple including any possible tests, techniques, and
technologies the couple may need to consider.

To complete this task, you will write the appropriate information in the relevant parts of this report. Make
sure that as you type into this document that you delete the instructions.

Figure 1: Image of genetic

counsellor consulting patients.

1
Allied Health Professionals Australia (AHPA), 2021. “Genetic Counselling”. Melbourne.
https://ahpa.com.au/allied-health-professions/genetic-counselling/
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Handy tips for writing a scientific report:

1. Use headings!

Remember that a report uses headings and subheadings to organise information into categories. You can
edit the headings and include subheadings as you see fit.

2. Include images, tables, graphs and/or figures!

Images, tables and graphs are also expected parts of a scientific report and should have an appropriate
title.

● For example, if you include a table, include a sentence summarising the information from the
table e.g. “Table 1: Punnett square of the probability of offspring from Parents II-1 and II-2
having a child with the condition.”
● If you include a diagram or image, you should also include a short caption describing what the
reader should focus on eg. “Figure 1: Microscopic images comparing a normal-shaped blood
cell, and a sickle-shaped blood cell.”

3. Cite your sources!

You will need to thoroughly research your case study to make sure that you provide accurate and detailed
information to your patients.

However, it is important to cite your sources and paraphrase any of the information you select to use. You
are allowed to directly quote from a source, however you will need to use footnotes as seen on page 1
from Allied Health Professionals Australia as an example.

You will also need to include a reference list at the end of your report, citing where you got all your
information, and images/tables/graphs that you did not create yourself.
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Year 10 Science - Topic 4 Genetics

Genetic Counselling
Report to a client about a
[genetic condition]
___

By [Your Name]
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INTRODUCTION
In your introduction, you will explain what an inherited genetic condition is based on one of the three case
studies provided.

The introduction must include the following information and key words:

● Explain what a genetic condition is and how it is inherited

● Describe the structure of DNA, Chromosomes, Alleles and Meiosis
● Explain how mutations in DNA lead to new alleles
● Define Recessive and Dominant traits and explain what this means in terms of the inheritance of
a recessive or dominant trait

DETAILS OF THIS CONDITION AND ITS

INHERITANCE
In this section, you will use research into the condition that affects your chosen case study to:

● Describe the symptoms, life expectancy, experiences and consequences of the condition.
● Identify the inheritance pattern of this condition using the terms autosomal/sex-linked,
dominant/recessive.
● Explain the features of inheritance of a condition with this pattern e.g. affecting only male
children or skipping a generation.
● Include a punnett square that explains the probability of each genotype and phenotype for two
heterozygous parents.
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WHAT DOES THIS MEAN FOR OUR CASE STUDY?

Genetic counsellors also consider the implications of a genetic diagnosis on the patient's immediate and
extended family.

In this section, you will need to write your formal recommendations to the family in your case study -
remember they are relying on your recommendations for their family planning. To do this, you will need
to use the skills you have developed in this Genetics unit to analyse their family pedigree, and write what
you think the family should do. Remember, you are a medical professional, so your language needs to be
formal and scientific however it should be simple and clear so that the family can understand.

You will need to include:

● An Analysis of the pedigree to determine the likelihood of your Case Study inheriting the
condition
● An Analysis of the pedigree and the creation of a Punnett Square to determine the likelihood of a
child of this couple inheriting the condition. To do this, you may need to make some assumptions
if all of the information is not contained in the pedigree or you may need to present all possible
solutions to the problem.
● Recommendations of other tests, technologies and techniques this couple may choose to use,
including how they work and the risks and benefits of each technology recommended. Ethical
considerations need to be presented for each technology.
● If you choose two or more tests, technologies or techniques, compare them and the ethical
considerations involved to determine if one or both are recommended.
○ What does this test, technology or technique involve?
○ How much does it cost in Australia and is it available in Australia?
○ When can this test, technology or technique be used? (Before pregnancy/to conceive, a
certain week of pregnancy or after birth)
○ What ethical issues need to be considered with this test, technology or technique?

List of possible tests, technologies and techniques to choose from

● Amniocentesis ● Surrogate mothering

● Chronic Villus Sampling (CVS) ● Gamete donation (egg or sperm donation)
● In Vitro Fertilization (IVF) ● Sex selection
● Gamete intra-fallopian transfer (GIFT) ● Preimplantation genetic diagnosis
● Embryo selection ● Genetic screening

Notes on Ethical concepts

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While there are many ethical concepts that can support the investigation of bioethical issues, one or more
of the following principles should be applied:

· Integrity: the commitment to searching for knowledge and understanding and the honest
reporting of all sources of information and communication of results, whether favourable or
unfavourable, in ways that permit scrutiny and contribute to public knowledge and understanding.

· Justice: the moral obligation to ensure that there is fair consideration of competing claims; that
there is no unfair burden on a particular group from an action; and that there is fair distribution
and access to the benefits of an action.

· Beneficence: the commitment to maximising benefits and minimising the risks and harms
involved in taking a particular position or course of action.

· Non-maleficence: involves avoiding the causations of harm. However, as positions or courses of

actions in scientific research may involve some degree of harm, the concept of non-maleficence
implies that the harm resulting from any position or course of action should not be
disproportionate to the benefits from any position or course of action.

· Respect: involves consideration of the extent to which living things have an intrinsic value
and/or instrumental value; giving due regard to the welfare, liberty and autonomy, beliefs,
perceptions, customs and cultural heritage of both the individual and the collective; consideration
of the capacity of living things to make their own decisions; and when living things have
diminished capacity to make their own decisions ensuring that they are empowered where
possible and protected as necessary.
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Medical Recommendations for [case study family]

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Bibliography
Write a list of the resources you used using the following format:

Author. (Year). Title of book, website, article. URL.