Genomics toolkit: Prostate

This area of the toolkit will cover a specific tumour site: the prostate.
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About the toolkit

From niche to necessity, genomic testing is now ready for rollout within the NHS. We want to help healthcare professionals deliver a gold standard of care to patients.

Genomics is rapidly becoming an integral part of cancer care. Its clinical significance will only increase in time, transitioning into a central pillar of routine cancer treatment and prevention. Macmillan understands the importance of supporting both those living with and beyond cancer, but also the people who make that happen: the healthcare professionals.

This area of the toolkit will cover a specific tumour site: the prostate.

About the author

Dany Bell is a Strategic Adviser Treatment, New medicines, Genomics at Macmillan Cancer Support.

Learn more about Dany's work.

Mainstreaming criteria

Somatic testing M218 panel criteria:

M218.1 Multi-target NGS panel - small variant (BRCA1, BRCA2) for somatic/tissue testing 

  • Patient is eligible for NICE approved PARP inhibitor and has a diagnosis of metastatic castration-resistant prostate cancer. Somatic analysis should be performed first, germline analysis (R444.2) should only be performed should there be insufficient tissue, or the somatic analysis has failed.  

M218.2 Multi-target NGS panel - structural variant (TMPRSS2-ERG, NTRK1, NTRK2, NTRK3)

  • Only required if there is a doubt over the aetiology of a tumour based on morphology and prostate carcinoma is in the differential.  

M218.3 TMPRSS2-ERG FISH

  • Only required if there is a doubt over the aetiology of a tumour based on morphology and prostate carcinoma is in the differential.  

Germline testing R430 for inherited prostate cancer:

Testing criteria:

  • Proband (first person in family) diagnosed with prostate cancer under 50 years of age.
  • Ashkenazi Jewish ancestry and prostate cancer at any age.
  • Proband diagnosed with metastatic prostate cancer under 60 years of age.
  • Proband diagnosed with prostate cancer with a family history of prostate cancer where estimated likelihood of identifying a pathogenic variant in the relevant target genes is at least 10%.

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist multidisciplinary team (MDT) with a cancer geneticist present.

Overlapping indications

  • R208 inherited breast cancer and ovarian cancer – proband (first person in family) affected by prostate cancer who has a personal/family history of other BRCA related cancers see R208 (BRCA related cancers = breast, ovarian, pancreatic, prostate).
  • R210 inherited MMR deficiency (Lynch syndrome) prostate cancer with a personal/family history of Lynch related cancers see R210 (Lynch related cancers Colorectal cancer, Endometrial cancer, Epithelial ovarian cancer, Ureteric cancer, Transitional cell cancer of renal pelvis, cholangiocarcinoma, small bowel cancer, Glioblastoma, endocervical cancer, multiple sebaceous tumours, prostate, gastric and pancreas).
  • R444 NICE approved PARP inhibitor treatment indication Metastatic, castration-resistant prostate cancer where somatic tumour testing (M218.1) has failed.
  • M218 somatic prostate cancer testing

Referrals for testing are triaged by the genomic laboratory and targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Testing should be at presentation and be requested by clinical genetics, oncology, or urology.

All tests below are undertaken within R430 unless clinical presentation or initial results indicate all are not necessary. 

 

 Code  Target type  Target name  Method
 R430.1  Small panel of genes  BRCA1, BRCA2, MLH1, MSH2, MSH6, ATM, PALB2, CHEK2  Small panel 
 R430.2  Small panel of genes  BRCA1, BRCA2, MLH1, MSH2, MSH6, ATM, PALB2, CHEK2  Exon level CNV detection by MLPA or equivalent

 

Associated tests - 2444.2 

 Code  Target type  Target name  Method
 R4444.2

NICE, approved PARP inhibitor treatment prostate cancer

  Small panel of genes  BRCA1, BRCA2  Small panel

Patient pathways

  • Prostate Cancer UK have developed their Best Practice Pathway which uses easy to follow flowcharts to guide healthcare professionals and helps them to deliver best practice diagnosis, treatment and support.

Clinical documents, Clinic set-up discussion and tool

Most teams find it takes 3 months to set up their services, here are some guidelines to help the process:

Before you start, we recommend that you review the “facilitating genomic testing competencies” and Communicating germline genomics results: A competency framework.

This is a reference document and is not intended to be used as an assessment tool.

Record of discussion

Talking to patients about genomics

  • Let’s talk about genomic testing on Vimeo: Produced in collaboration with genetic counsellor Amanda Pichini, and featuring interviews with experts, the series is a great introduction for those less familiar with the process.
  • The Genomics Conversation: What matters to patients - The Genomics Education Programme met with patients and their relatives to talk about their experiences of genomic testing and the key insights they want healthcare professionals to know.


Prostate cancer genomic testing standard operating procedure

Patient information and support

Information from Macmillan

Support from Macmillan

Further support and information

Leaflets:

Educational resources for healthcare professionals

This section of the toolkit covers key points around counselling, consent and results. In addition, a list of frequently asked questions are answered.


Prostate specific:

Susceptibility genes

This section of the toolkit covers the prostate cancer susceptibility genes:

  1. BRCA1 and BRCA2
  2. ATM
  3. CHEK2
  4. MLH1 MSH2 MSH6 PMS2

Learn more about prostate cancer susceptibility genes

GMSA map

A map to highlight the boundaries when professionals are selecting their regional GMSA website.

Visit your regional Genomic Medicine Service Alliance (GMSA) website:

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